Gene Summary

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

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 2.01×10-05
preweaning lethality, complete penetrance Zfp423em1(IMPC)J HOM   Early adult 0.00
increased circulating alkaline phosphatase level Zfp423em1(IMPC)J HET Early adult 1.04×10-05
decreased locomotor activity Zfp423em1(IMPC)J HET Early adult 7.56×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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 Skull Dorso Ventral Orientation

9 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

MicroCT E18.5

Embryo reconstruction

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Electroretinography 3

Fundus file

2 Images

Electrocardiogram (ECG)

Waveform Image

14 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
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormali... 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
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal... OMIM:615771
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220200
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Leukoencephalopathy, Progressive, With Ovarian Failure
Leukoencephalopathy, Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, P... OMIM:615889
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus... ORPHA:401820
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla... OMIM:604213
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Babinski sign, Colpocephaly, Primary microcep... OMIM:614019
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callos... ORPHA:401830
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary mic... ORPHA:171703
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Small for gestational age, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb dystonia, Ba... OMIM:619054
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Tetraparesis, Polymicrogyria, Hypoplasia of the brainstem, Hypoplas... OMIM:610031
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Hypo... OMIM:611603
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Cerebellar atrophy, Lateral ventricle dilatation, Hypoplasia... ORPHA:300573
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebellar atrophy, Cerebellar ataxia associated with quadrupe... OMIM:615268
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Spastic Paraplegia 88, Autosomal Dominant
Ventriculomegaly, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Distal sensory impa... OMIM:620106
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis OMIM:605388
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Microcephaly 17, Primary, Autosomal Recessive
Spasticity, Ventriculomegaly, Failure to thrive, Hypoplasia of the brainstem, Hypoplasia of the c... OMIM:617090
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Ventriculomegaly, Failure to thrive, Cerebral atrophy, Tetra... ORPHA:255182
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Clum... ORPHA:453521
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Neuronal loss in basal ganglia, Cerebral cortical atrophy, Lateral ventric... OMIM:607596
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Masa Syndrome
Spastic paraplegia, Ventriculomegaly, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Gait d... ORPHA:2466
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Hypertonia, Ataxia ORPHA:2672
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:401815
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... ORPHA:363654
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Dilated fourth ventricle, Gait ataxia, Cerebellar hypoplasia, Microcephaly, Hea... OMIM:620208
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,... OMIM:618266
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor ORPHA:94122
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Ce... ORPHA:306669
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Failure to thrive,... OMIM:618276
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Ca... ORPHA:363717
Band Heterotopia
Ventriculomegaly, Spasticity, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus ca... OMIM:600348
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Optic nerve hypoplasia, Dysgenesis of... ORPHA:171680
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Cerebellar atrophy, Chorea, Dilated fourth ventricle, Myoclonus, Ga... ORPHA:251347
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Gait ataxia, Myoclonus, Agenesis of corpus callosum, Action myoclonus, Frequent... OMIM:616540
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... ORPHA:101010
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Lateral ventricle dilatation, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Mi... ORPHA:77299
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Lateral ventricle dilatation, Hemiparesis, Cortical dysplasia, Thick cerebra... ORPHA:101071
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Spasticity, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:614039
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Corpus Callosum, Partial Agenesis Of, X-Linked
Spasticity, Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus cal... OMIM:304100
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Dystonia, Hydroc... OMIM:619302
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Diffu... OMIM:613925
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Cere... OMIM:618824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Microcephaly, Seizures, And Developmental Delay
Ventriculomegaly, Cerebellar atrophy, Hypoplasia of the corpus callosum, Microcephaly, Progressiv... OMIM:613402
Tubulinopathy-Associated Dysgyria
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormality ... ORPHA:467166
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Decreased body weight, Microceph... OMIM:619420
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Basal ganglia calcification, Chorea, Dysmetria, Parkins... OMIM:618317
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy, Polymic... ORPHA:79243
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Loss of ambulation, Abnormal cerebral whit... OMIM:620315
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Hypoplasia of the brainstem, Inability to walk, Hypoplasia of the corpus callos... OMIM:616486
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Microcephaly, Ventriculomegaly, Agenesis of corpus callosum OMIM:616570
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Polymicrogyria, Hypoplasia of the brainst... OMIM:618730
Olivopontocerebellar Atrophy-Deafness Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Olivopontocerebellar atrophy, Hypertonia, Ataxia ORPHA:2732
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Spasticity, Lateral ventricle dilatation, Abnormal dentate nucleus morphology, Microcephaly, Part... OMIM:619517
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Postural tremor, Li... OMIM:183090
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal periventri... OMIM:615960
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista... OMIM:619742
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressive microcephaly, Hyperton... OMIM:618959
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Periventricular cy... ORPHA:255138
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Masa Syndrome
Spastic paraplegia, Shuffling gait, Ventriculomegaly, Paraplegia, Agenesis of corpus callosum, Mi... OMIM:303350
Basal Ganglia Calcification, Idiopathic, 5
Hand tremor, Basal ganglia calcification, Postural tremor, Chorea, Cerebral calcification, Parkin... OMIM:615483
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... ORPHA:171622
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, ... OMIM:615362
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Lateral ventricle dilatation, Inability to walk, Secondary microcep... OMIM:617854
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Lower limb spasticity, Abnormal... OMIM:616948
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Reduced cerebral white matter volume, Cerebellar atrophy, Cerebral atrophy, Agenesis ... OMIM:615095
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Failure to thrive in infancy, Myoclon... ORPHA:284417
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Sub-Cortical Nodular Heterotopia
Spasticity, Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morpholog... ORPHA:101029
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Cerebellar atrophy, Inability to walk, Periventricular leukomalacia, Appendicular spasticity, Age... OMIM:618324
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Cerebral cortical atrophy, Lateral ventricle dilatation, Spastic tetraparesis, Periventricular cy... OMIM:617668
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Mi... OMIM:607317
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Lateral ventricle dilatation, Inability to walk, Dilated fourth ventricle, Abno... OMIM:613443
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Progressive spasticity, Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Intellectual Developmental Disorder, Autosomal Recessive 69
Ventriculomegaly, Spasticity, Cerebellar hypoplasia, Microcephaly, Ataxia OMIM:618383
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Cerebral calcif... ORPHA:101110
Alg13-Cdg
Clumsiness, Abnormal lateral ventricle morphology, Global brain atrophy, Decreased body weight ORPHA:324422
Lissencephaly, X-Linked, 1
Spasticity, Agenesis of corpus callosum, Ataxia, Pachygyria, Agyria, Lissencephaly OMIM:300067
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,... ORPHA:423275
Combined Oxidative Phosphorylation Defect Type 39
Abnormal corpus callosum morphology, Involuntary movements, Tip-toe gait, Lateral ventricle dilat... ORPHA:565624
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Spasticity, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hypert... OMIM:618890
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Isolated Corpus Callosum Agenesis
Poor coordination, Agenesis of corpus callosum ORPHA:200
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... ORPHA:314978
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Failure to th... OMIM:618606
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia, Hypoplasi... ORPHA:488635
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Ataxia ORPHA:85334
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Basal ganglia ca... OMIM:221770
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Hemiparesis, Agenesis of corpus cal... OMIM:617542
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Leukoencephalopathy, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Dilated fourth ventr... OMIM:620428
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lis... OMIM:613153
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... OMIM:618736
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... OMIM:608629
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebral cortical atrophy, Decreased thalamic volume, Hypoplasia of the corpus callosum, Cerebell... OMIM:619072
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Juvenile Huntington Disease
Broad-based gait, Ventriculomegaly, Cerebellar atrophy, Neuronal loss in basal ganglia, Cerebella... ORPHA:248111
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Hypoplasia of the pons, Polymicrogyria, Typ... ORPHA:370959
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Ventriculomegaly, Broad-based gait, Cerebellar atrophy, Hand tremor, G... OMIM:617862
Pontocerebellar Hypoplasia, Type 11
Spasticity, Broad-based gait, Hypoplasia of the pons, Difficulty walking, Inability to walk, Limb... OMIM:617695
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Cach Syndrome
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cerebellar vermis... ORPHA:135
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276241
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220220
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Spasticity, Cerebral atrophy, Hypoplasia of the brainstem, Inability to walk, Absent septum pellu... OMIM:618492
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainst... ORPHA:101070
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Spasticity, Inability to walk, Cerebellar malformation, Dilated fou... ORPHA:357058
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Severe X-Linked Intellectual Disability, Gustavson Type
Spasticity, Lateral ventricle dilatation, Dilated fourth ventricle, Myoclonus, Cerebellar hypopla... ORPHA:3078
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Hypoplasia of the corpus ... OMIM:300423
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the ... OMIM:604360
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Ventriculomegaly, Thin corpus callosum, Agenesis of corpus callosum OMIM:618286
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Spinocerebellar Ataxia 18
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Thin corp... OMIM:620200
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Ventriculomegaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus c... ORPHA:85179
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia, Thin corpus callosum OMIM:620270
Leukodystrophy, Hypomyelinating, 11
Spasticity, Cerebellar atrophy, Failure to thrive, Myoclonus, Tremor, Hypoplasia of the corpus ca... OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
Microcephaly 16, Primary, Autosomal Recessive
Spasticity, Decreased body weight, Agenesis of corpus callosum, Primary microcephaly, Spastic tet... OMIM:616681
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, T2 hypointense thalamus, Cl... ORPHA:1947
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Lissencephaly 6 With Microcephaly
Spasticity, Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Hypoplasia of the corpus callos... OMIM:616212
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, Dand... OMIM:616602
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Septo-optic dysp... ORPHA:1528
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Spasticity, Impaired pain sensation, Fasciculations, Chorea, Parest... OMIM:164400
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ... ORPHA:572798
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Paresthesia, Cerebral calcification, B... ORPHA:73256
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Superior cereb... OMIM:617622
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Failure to thrive, Cerebral atrophy, Hypoplasia of the corpus callo... OMIM:600118
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Failure to thrive, Myoclonus, Cerebellar hypoplasia, Limb hypertoni... OMIM:607196
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callo... ORPHA:250972
Myasthenic Syndrome, Congenital, 23, Presynaptic
Frequent falls, Agenesis of corpus callosum OMIM:618197
Microhydranencephaly
Ventriculomegaly, Hydranencephaly, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cere... OMIM:605013
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Dysphagia ORPHA:284271
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Spasticity, Oculogyric crisis, Lateral ventricle dilatation, ... ORPHA:208447
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus ca... OMIM:614833
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Lateral ventricle dilatation, Abnormal cerebellum morphology, Distal sensory ... OMIM:256850
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... ORPHA:98763
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Loss of ambulation, Hypoplasia of the co... OMIM:617916
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Alg2-Cdg
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of ... ORPHA:79326
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Dilated fourth ventricle, Abnormali... ORPHA:276244
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly, Spasticity, Cerebellar atrophy, Cerebral hypoplasia, Neuronal loss in the cereb... ORPHA:168486
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Asparagine Synthetase Deficiency
Dilated third ventricle, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Clonus, Spast... OMIM:615574
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Lateral ventricle dilatation, Inability to walk, Microcephaly, Thin corpus... OMIM:615716
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
2,4-Dienoyl-Coa Reductase Deficiency
Spasticity, Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Incoordina... OMIM:616034
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Lateral ventricle dilatation, Cerebral palsy, Cerebral atr... OMIM:619847
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Small for gestational age, Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor... OMIM:312170
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Leukoencephalopathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremo... OMIM:618387
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia OMIM:615705
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:613163
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Microcepha... OMIM:614219
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Tetraplegia, Hype... OMIM:274270
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dila... OMIM:610688
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... OMIM:618093
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morpholog... ORPHA:300570
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Inability to walk, C... OMIM:618273
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the pons, Myoclonus, Appendicular spas... OMIM:617669
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Craniotelencephalic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Lissencephaly, Opti... OMIM:218670
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Spastic paraplegia, Subependymal cysts, Partial agenesis of the corpus callosum, Dystonia, Microc... OMIM:245349
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Basal ganglia calcification, Chorea, Limb dysmetria, Tr... OMIM:213600
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Cerebral cortical atrophy, Spasticity, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of th... ORPHA:500144
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly... OMIM:616171
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... OMIM:617284
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Abnormal cortical gyration, Fasciculations, Abnormal substantia nigra ... ORPHA:98756
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Lateral ventricle dilatation OMIM:619278
Hydrocephalus, Congenital, X-Linked
Spastic paraplegia, Spasticity, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesi... OMIM:307000
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Broad-based gait, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Pachygyria, Hypoplas... OMIM:224050
Autosomal Spastic Paraplegia Type 58
Spasticity, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticollis, Unsteady gait, Erratic ... ORPHA:397946
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Broad-based gait, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Dysmetri... OMIM:606854
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Ventriculomegaly, Spasticity, Failure to thrive, Agenesis of corpus callosum, Microcephaly OMIM:615286
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Lateral ventricle dilatation, Difficulty walking, Fa... ORPHA:488627
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Poor fine motor coordination OMIM:618330
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Spasticity, Abnormal cortical gyration, Ventriculomegaly, Upper lim... ORPHA:2524
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Babinski sign, Microcephaly, Spastic tetraplegia,... OMIM:252650
Mitochondrial Complex I Deficiency, Nuclear Type 16
Spasticity, Failure to thrive, Agenesis of corpus callosum, Caudate atrophy, Dystonia, Spastic te... OMIM:618238
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Inability to walk, Seconda... OMIM:620317
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... OMIM:617145
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... OMIM:610357
Neuroferritinopathy
Blepharospasm, Involuntary movements, Resting tremor, Eye of the tiger anomaly of globus pallidus... ORPHA:157846
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intention tremor OMIM:615386
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Dilated third ventricle, Tip-toe gait, Lateral ventricle dilatation, Cerebral... OMIM:617296
Familial Congenital Mirror Movements
Cerebral palsy, Abnormal corticospinal tract morphology, Agenesis of corpus callosum, Clumsiness,... ORPHA:238722
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Failure to thrive, Myoclonus, Dysmetria, Agenesis of corpus callosum, Head titubation, Ataxia, Tr... OMIM:250620
Developmental And Epileptic Encephalopathy 97
Inability to walk, Ventriculomegaly, Tremor OMIM:619561
Foxg1 Syndrome
Abnormal corpus callosum morphology, Spasticity, Difficulty walking, Inability to walk, Myoclonus... ORPHA:561854
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Dysphagia, Ataxia, Frequent falls, Dysdia... OMIM:617691
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, S... OMIM:617672
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy,... ORPHA:599373
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait OMIM:128235
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski si... OMIM:618088
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Spinocerebellar Ataxia, Autosomal Recessive 10
Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor OMIM:613728
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebral cortical atrophy, Lateral ventricle dila... OMIM:618291
Glutaric Acidemia I
Lateral ventricle dilatation, Failure to thrive, Rigidity, Opisthotonus, Hydrocephalus, Dystonia,... OMIM:231670
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Slc35A2-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Inability to walk, Failure to... ORPHA:356961
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ata... OMIM:614229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... OMIM:613154
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly, Limb hypertonia, Primary... ORPHA:466688
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Dysmetria, Loss of ambulation, Clumsine... OMIM:256731
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Cerebral cortical atrophy, Lateral ventricle dilatation, Inability to walk,... ORPHA:2822
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Cerebral cortical... ORPHA:33445
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign,... OMIM:613162
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor, Agenesis of corpus callosum OMIM:231950
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Akinesia, Agenesi... OMIM:225790
Dystonia 22, Juvenile-Onset
Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower limb spasticity, Tor... OMIM:620453
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum, Generalized dystonia OMIM:619025
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Generalized dystonia, Inability to walk, Partial agenesis of the corpus callosum, Dys... OMIM:619653
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Abnormal cerebellum morphology, Positive Romberg sign, Gait ataxia, Babinski sign... OMIM:608984
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem ... OMIM:619028
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, Parkinsonism, Ab... ORPHA:216873
Coach Syndrome 2
Cerebellar vermis hypoplasia, Oculomotor apraxia, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Leukoencephalopathy With Calcifications And Cysts
Leukoencephalopathy, Spasticity, Cerebellar dentate nucleus calcification, Intracerebral perivent... ORPHA:542310
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar dysplasia, Cerebellar hypoplasia, Peri... OMIM:616531
Autosomal Recessive Primary Microcephaly
Ventriculomegaly, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pac... ORPHA:2512
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Hypoplasia of the brainstem, Myoclonus, Tremor, Dystonia, Thin corpus callosum OMIM:619651
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, P... OMIM:616819
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, ... ORPHA:93952
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Spasticity, Cerebellar vermis hypoplasia, Cerebellar atrophy, Diffi... ORPHA:98
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Focal T2 hypointense basal ganglia lesion, Abnormal pyrami... ORPHA:139485
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Usmani-Riazuddin Syndrome, Autosomal Recessive
Spasticity, Agenesis of corpus callosum OMIM:619548
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Ventriculomegaly, Abnormal cerebellum morphology, Tremo... OMIM:300957
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Failure to thrive, Tetraparesis, An... OMIM:620546
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... OMIM:614877
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Cerebral atrop... OMIM:614409
Spinocerebellar Ataxia 49
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... OMIM:619806
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainstem, Episodic ataxia, Hyp... ORPHA:420179
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Periventricular leukomalacia, Dysmetria, Tremor, B... OMIM:210000
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, A... ORPHA:397725
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Cerebral palsy, Secondary microcephaly, Abnormal caudate nucleus mo... ORPHA:2148
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Cerebellar atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic les... ORPHA:79264
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cerebellar hypoplasia, Babinski sig... OMIM:620316
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ventriculomegaly, Failure to thrive, Inability to walk, Tremor, Cerebellar hypoplasia, Microcepha... OMIM:619556
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia OMIM:620221
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p... ORPHA:352641
Spinocerebellar Ataxia 50
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos... OMIM:620158
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Ventriculomegaly, Reduced cerebral white matter volume, Failure to thrive,... OMIM:620352
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... ORPHA:71517
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Chronic Hiccup
Abnormal eating behavior, Dehydration ORPHA:396
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Chiari Malformation Type Ii
Chiari malformation, Agenesis of corpus callosum, Opisthotonus, Hydrocephalus, Ataxia OMIM:207950
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Impaired pain sensation, Abnormal brainstem morphology, Abnormal ce... ORPHA:1532
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Cerebellar hyp... OMIM:617810
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dysm... OMIM:607136
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Inability to... OMIM:613155
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Ankle clonus, Frequent falls, Intention tremor, Lower limb hypertonia OMIM:619995
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Impaired... ORPHA:137898
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Spasticity, Parietal cortical atrophy, Agenesis of corpus callosum, Microcephaly, Frontal cortica... OMIM:618766
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Caribbean Parkinsonism
Cerebral cortical atrophy, Ventriculomegaly, T2 hypointense basal ganglia, Midline brain calcific... ORPHA:97355
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Spasticity, Decreased thalamic volume, Failure to thrive, Secondary microcephaly, Diffuse cerebra... OMIM:613668
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Holoprosencephaly 5
Hydrocephalus, Microcephaly, Lateral ventricle dilatation OMIM:609637
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Myoclonus, Hypoplasi... OMIM:618193
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Ventriculomegaly, Failure to thrive, Hypoplasia of the corpus callosum, Agenesis of corpus callos... OMIM:618603
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Cerebral calcification, Cerebella... OMIM:617397
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... OMIM:616719
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoclonus, D... ORPHA:79263
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosum, Hydroc... ORPHA:2182
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Parkinsoni... ORPHA:329284
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Gait ataxia, Dysmetria, Attention deficit hyperactivity disorder, Ataxia, Pol... OMIM:614306
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Periventricular white matter hyperintensities, Tremor, Microcephaly, Hydrocepha... OMIM:619470
Gillespie Syndrome
Ventriculomegaly, Cerebellar atrophy, Postural tremor, Cerebellar hypoplasia, Ataxia, Thin corpus... OMIM:206700
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... ORPHA:101112
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Microcephaly, Ataxia, Poor coordination, Thick cerebral cortex ORPHA:261183
Hsd10 Disease
Ventriculomegaly, Spastic paraparesis, Frontotemporal cerebral atrophy, Myoclonus, Tremor, Rigidi... ORPHA:391417
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Cerebral atro... OMIM:615157
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Spasticity, Agenesis of corpus callosum, Microcephaly, Tetraplegia ORPHA:2508
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Glycine Encephalopathy 1
Myoclonus, Agenesis of corpus callosum OMIM:605899
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Failure to thrive, Cerebral palsy, Appendicular spasticity, Dysplas... OMIM:620001
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... OMIM:600224
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Chiari type I m... OMIM:218350
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor... OMIM:617435
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Spasticity, Failure to thrive, Decreased body weight, Microcephaly, Hypertonia, Partial agenesis ... OMIM:618346
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia OMIM:617836
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... ORPHA:276435
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Abnormal basal ganglia morphology, Decreased thalamic volume, Spastic tetraplegia OMIM:618646
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age... OMIM:619244
Combined Oxidative Phosphorylation Deficiency 2
Mild fetal ventriculomegaly, Small for gestational age, Agenesis of corpus callosum OMIM:610498
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Periventricular cysts, Large f... ORPHA:544488
Lissencephaly 7 With Cerebellar Hypoplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Agyria, Lissencephaly OMIM:616342
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Tremor, Diffuse cer... ORPHA:330050
Rhombencephalosynapsis
Ventriculomegaly, Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Abn... ORPHA:59315
4H Leukodystrophy
Cerebellar atrophy, Striatal T2 hyperintensity, Tremor, Dysmetria, Abnormality of extrapyramidal ... ORPHA:289494
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated thir... ORPHA:397715
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly, Dystonia, Thin cor... OMIM:614105
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... OMIM:302800
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:620174
Spinocerebellar Ataxia 8
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Abnormal pyramid... OMIM:608768
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis