Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
disabled 1
Synonyms:
C630028C02Rik

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dab1 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 Dab1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dab1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuropathy, Hereditary Sensory, Atypical
Sensory ataxia, Babinski sign, Ataxia OMIM:256860
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Myoclonus, Familial, 1
Frequent falls, Falls, Myoclonus, Ataxia OMIM:614937
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Rigidity, Ataxia, Spasticity ORPHA:2672
Spinocerebellar Ataxia Type 23
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... ORPHA:101108
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Hypoplasia of the corpus callosum, Impaired vibration sensation in the lower ... ORPHA:171622
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Ataxia, ... OMIM:618174
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Mental Retardation, Autosomal Recessive 53
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Ataxia OMIM:616917
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dysplasia, Dysplastic corpus... OMIM:604213
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia OMIM:616410
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia, Ataxia OMIM:617769
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia,... OMIM:615889
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... OMIM:600348
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus, Cerebellar agenesis OMIM:307010
Microcephaly 9, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:614852
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Spastic Paraplegia 32, Autosomal Recessive
Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Ankl... OMIM:611252
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria OMIM:615752
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait ORPHA:94122
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Leukodystrophy, Hypomyelinating, 11
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Diffuse white matter abnormalities, Diffuse swelling of cerebral white matter, Megalencephaly, Ce... OMIM:613925
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Ataxia, Polymicrogyria, Cortical dysplasia, Microcephaly OMIM:615771
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Cerebral atrophy, Ataxia, Cerebellar atrophy, Hypogonadotropic hypog... OMIM:212840
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
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Abnormal cerebral white matter morphology, Leukoenc... OMIM:300660
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal pyramidal sign, Ataxia, Cerebellar at... OMIM:616948
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Difficulty walking, Cerebral cortical atrophy, Spastic gait, Lowe... ORPHA:401820
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral morphology, Simplified gyral pattern, Microcephaly, Abno... ORPHA:329228
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Poor fine motor coordination... ORPHA:98762
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
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
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy,... OMIM:617862
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Cerebral atrophy, Babinski sign, Gait ataxia OMIM:616192
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Simplified gyral pattern, Hyperact... OMIM:613402
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Microcephaly, Spasticity OMIM:614322
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy, Distal sensory i... OMIM:618387
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degeneration, Optic disc ... OMIM:618195
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Myoclonus, Ataxia OMIM:600143
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity OMIM:611105
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortical dysplasia, Micro... OMIM:618709
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Frontoparietal cortical... OMIM:610031
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Progressive inability to walk, Ce... ORPHA:521406
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... OMIM:614860
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcep... OMIM:611726
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Dysplastic corpus callosum, Cerebellar atrophy... OMIM:618276
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Simplified gyral pattern OMIM:604804
Glutathionuria
Tremor OMIM:231950
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebral white matter hypoplasia... OMIM:618730
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... OMIM:117360
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Neurodegeneration With Brain Iron Accumulation 7
Hypoplasia of the corpus callosum, Cerebral atrophy, Loss of ability to walk, Ataxia, Cerebellar ... OMIM:617916
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Dysgyr... ORPHA:352682
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Developmental And Epileptic Encephalopathy 76
Inability to walk, Upper limb spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy, Ce... OMIM:618468
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... ORPHA:423275
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bradykinesia, Act... OMIM:300423
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... OMIM:617201
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Cerebral atrophy, Hyperkinetic movements, Cerebellar atrophy, Myoclon... OMIM:616981
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Truncal ataxia, Ataxia OMIM:617584
Lissencephaly 4
Microcephaly, Agenesis of corpus callosum, Lissencephaly, Simplified gyral pattern OMIM:614019
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia ORPHA:228169
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Myoclonus, Intention tremor, Morning myoclonic jerks ORPHA:308
Dandy-Walker Syndrome
Truncal ataxia, Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermi... OMIM:220200
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar hypoplasia, Cerebral cortical atrophy, Progress... ORPHA:314603
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Impaired vibra... OMIM:617225
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Cerebral cortical atrophy, Progre... OMIM:604326
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Cerebellar hypoplasia, Ataxia OMIM:618383
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign OMIM:613908
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Cerebellar atrophy, Microcep... OMIM:618973
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Pontocerebellar Hypoplasia, Type 2D
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Chorea, Cere... OMIM:613811
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Lower limb spasticity, Aplasia/Hypoplasia... ORPHA:401830
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Leukoenceph... OMIM:611390
Joubert Syndrome 13
Pachygyria OMIM:614173
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Microcephaly, Agenesis of ... OMIM:614039
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babi... OMIM:607317
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Hypoplasia of the corpus callosum, Thick cerebral cortex,... OMIM:618677
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Torticollis, Frequent falls, Spasticity OMIM:618369
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Hypoplasia of the corpus callosum, Spastic tetraparesis, Iron accumulation in sub... ORPHA:496756
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly OMIM:618572
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebral white matter atrophy, Cerebellar... ORPHA:98756
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations OMIM:613728
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, N... ORPHA:248111
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Truncal ataxia, Corpus callosum atrophy, Reduced sperm motility, Abnormal sperm head... ORPHA:320391
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Cachexia, Ataxia OMIM:613662
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Unsteady gait OMIM:616127
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculat... OMIM:618170
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Cerebellar atrophy, Cortical dysplasia OMIM:608278
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Ataxia, Abnormal cerebellum morphology, Babinski sign, Leukoencephalopathy, S... OMIM:618242
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 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Impaired vibratory sensation, Hypoplasia of the corpus callosum, Cerebellar vermis hy... ORPHA:98
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Pachygyria, Truncal ataxia, Intention tremor, Cerebellar hypopla... OMIM:224050
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia, Hypertonia, Bradykinesia, Basal ganglia calcification, Parki... OMIM:618824
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:171703
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Miller-Dieker syndrome (MDS)
Microcephaly, Lissencephaly DECIPHER:21
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebellar atrophy, Cerebral atrophy OMIM:610003
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Infertility, Limb dysmetria, Head tremor, Hypoplasia of the corpus callosum, ... OMIM:614409
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigr... OMIM:600116
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Mulibrey Nanism
Cachexia ORPHA:2576
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Abnormal cerebel... OMIM:270500
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Cerebellar atrophy, Distal sensory impairment, Steppage gait OMIM:607250
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Progressive cerebellar ataxia OMIM:618412
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Bradykinesia, Ankle clon... OMIM:617435
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ankle clonus, Ataxia, Cerebellar atrophy, Lower limb spasticity, Spastic gait... OMIM:610357
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Huntington Disease-Like 2
Involuntary movements, Chorea, Parkinsonism, Weight loss ORPHA:98934
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum ... ORPHA:101070
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cer... ORPHA:98763
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615705
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spastic tetraplegia, Spasticity OMIM:617207
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Chore... OMIM:618088
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... OMIM:213600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Hyp... OMIM:615924
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... ORPHA:385
Huntington Disease-Like 2
Chorea, Weight loss, Bradykinesia, Action tremor, Rigidity OMIM:606438
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorab... ORPHA:314632
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Bradykinesia, Fasciculations, Rigidity, Spasticity OMIM:183050
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Abnormal ... OMIM:302800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Hypoplasia of the corpus callosum, Chorea... OMIM:617672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Ataxia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy, Secondary microcephaly, Spa... OMIM:617954
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Abnormal periventricular white matter morphology, Hypoplasia of the corpus ca... OMIM:613647
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Joubert Syndrome 24
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Dysmetria, Spasticity OMIM:616654
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Cerebral atrophy, Poor fine motor coordination, Ataxia, Cer... ORPHA:79263
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Cerebellar atrophy, Lower limb s... OMIM:607565
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Ataxia-Pancytopenia Syndrome
Abnormal cerebral white matter morphology, Ataxia, Ankle clonus, Cerebellar atrophy, Unsteady gai... OMIM:159550
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Hypoplasia of the cor... ORPHA:137898
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Leukodystrophy, Hypomyelinating, 9
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity OMIM:616140
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Babinski sign ORPHA:101112
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Cerebral calcification, Myoclonus, Microcephaly, Choreoathetosis OMIM:261630
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in subst... ORPHA:329284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, Abnormal cerebral white matter... OMIM:613153
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Limb dysmetria, Babinski sign, Distal sensory impairment OMIM:600223
Aicardi-Goutieres Syndrome 6
Dystonia, Tremor, Loss of ability to walk, Cerebral calcification, Microcephaly, Rigidity OMIM:615010
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Leukodystrophy, Hypomyelinating, 6
Dystonia, Tremor, Rigidity, Ataxia, Cerebellar atrophy, Microcephaly, Choreoathetosis, Spasticity OMIM:612438
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Oculogyric crisis, Cerebellar atrophy, D... ORPHA:330050
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Cerebral cortical atrophy,... OMIM:609195
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Impaired tandem gait, Cerebellar atrophy, Lower limb spasticity, Myoclonus, Dysme... OMIM:619028
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormality of neuronal migration ORPHA:945
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Dysmetria, Frequent falls, Spasticity OMIM:617691
Moynahan Syndrome
Cachexia ORPHA:2574
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Spastic Paraplegia 35, Autosomal Recessive
Spastic paraplegia, Dystonia, Abnormal periventricular white matter morphology, Spastic parapares... OMIM:612319
Combined Oxidative Phosphorylation Deficiency 45
Abnormal cerebral white matter morphology, Tremor, Ataxia OMIM:618951
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Abnormal periventricular white matter morphology, Cerebellar at... OMIM:618404
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Ataxia-Oculomotor Apraxia 4
Tetraplegia, Dystonia, Oculomotor apraxia, Ataxia OMIM:616267
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi... OMIM:614947
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... ORPHA:512260
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Cerebral atrophy, Abnormal pyramidal sign, Progressive ... ORPHA:352641
Spinocerebellar Ataxia Type 32
Azoospermia, Progressive cerebellar ataxia, Cerebellar atrophy, Testicular atrophy, Male infertility ORPHA:276183
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria OMIM:256731
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy OMIM:609306
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Encephalopathy, Recurrent, Of Childhood
Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Tuberculosis
Weight loss ORPHA:3389
Riboflavin Transporter Deficiency
Tremor, Cachexia, Myoclonus, Ataxia ORPHA:97229
Neuroferritinopathy
T2 hypointense thalamus, Dystonia, Palatal myoclonus, Abnormal dentate nucleus morphology, Chorea... ORPHA:157846
Isaac Syndrome
Fasciculations, Weight loss ORPHA:84142
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Dystonia, Difficulty walking, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal pyram... ORPHA:527497
Spinocerebellar Ataxia Type 42
Gait ataxia, Impaired vibration sensation at ankles, Head tremor, Resting tremor, Impotence, Spas... ORPHA:458803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Microcephaly, Cerebellar hypoplasia OMIM:613155
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:617810
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Abnormal periventricular white matter morphology, Progressive extrapyramidal movement d... ORPHA:513436
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Hyperactivity, Spas... OMIM:300983
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical ... ORPHA:306669
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... OMIM:615673
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Athetosis OMIM:615159
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Hypoplasia of the corpus callosum, Ataxia, Abnormal upper motor neuron... OMIM:607694
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Myoclonus, Microcephaly, Spasticity OMIM:618426
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Cerebellar atrophy, Dysmetria, Microcephaly, Ch... OMIM:617988
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Cerebellar atrophy, Stereotyp... OMIM:618917
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Meningocele, Polymicrogyria, Focal co... ORPHA:101030
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... OMIM:164500
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Pulmonary Blastoma
Weight loss ORPHA:64741
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy,... ORPHA:391417
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Hypoplasia of the corpus callosum, Tremor, Distal sensory impairment OMIM:616668
Gabriele-De Vries Syndrome
Abnormal cerebral white matter morphology, Tremor, Waddling gait, Dystonia OMIM:617557
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Craniofacial dystonia, Bradykinesia, Torticollis, Cerebellar atrophy... ORPHA:71517
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Cerebe... OMIM:615491
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Tremor, Ataxia, Spasticity OMIM:278780
Christianson Syndrome
Gait ataxia, Truncal ataxia, Cachexia, Stereotypy ORPHA:85278
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Bradykinesia, Frontotemporal cerebral atrophy, Parkinsonis... OMIM:612953
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Clonus, Hypoplasia of the corpus callosum, Chorea, Cerebral atrophy, Cerebellar hypopla... OMIM:612389
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Spastic Paraplegia 7, Autosomal Recessive
Dysdiadochokinesis, Spastic paraplegia, Gait ataxia, Spastic ataxia, Slurred speech, Lower limb h... OMIM:607259
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Abnormal cerebral white matter morphology, Myoclonus OMIM:618587
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Impaired vibration sensation at ankles, Limb ataxia, Difficult... ORPHA:98772
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Intention tremor, Ataxia, Basal ganglia calcification, Cerebella... OMIM:616505
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Midline brain calcifications, Bradykinesia, Weakness ... ORPHA:97355
Progressive Myoclonic Epilepsy Type 3
Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Chin myoclonus, Progressive cerebell... ORPHA:263516
Mental Retardation, Autosomal Dominant 13
Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Abnormality of neuronal migration OMIM:614563
Tremor-Ataxia-Central Hypomyelination Syndrome
Positive Romberg sign, Dystonia, Postural tremor, Clumsiness, Hypogonadotropic hypogonadism, Hypo... ORPHA:447896
Developmental And Epileptic Encephalopathy 5
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar atrophy, Microcephaly, Progressiv... OMIM:613477
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Simpl... OMIM:616212
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, Refractory anemia, B... OMIM:231095
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign ORPHA:445062
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Speech apraxia, Impaired proprioception, Rigidity, Hypoplasia of the pons, Postural tremor, Corpu... ORPHA:412057
Developmental And Epileptic Encephalopathy 24
Ataxia OMIM:615871
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Ataxia OMIM:618637
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Fasciculations, Tongue fasciculations ORPHA:276435
Juvenile Amyotrophic Lateral Sclerosis
Upper limb spasticity, Chorea, Hypertonia, Spastic diplegia, Head titubation, Ataxia, Opisthotonu... ORPHA:300605
Congenital Disorder Of Glycosylation, Type Iii
Microcephaly, Cerebellar atrophy, Cerebral atrophy, Truncal ataxia OMIM:613612
Joubert Syndrome 33
Oculomotor apraxia, Ataxia OMIM:617767
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Neurofibrillary tangles, Apraxia, Limb ataxia, Bradykinesia,... OMIM:137440
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Rigidity, Tremor, Hypoplasia of the cor... OMIM:618877
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Head tremor, Craniofacial dystonia, Writer's cramp, Cerebral ... ORPHA:420492
Leukodystrophy, Hypomyelinating, 21
Dystonia, Corpus callosum atrophy, Tetraparesis, Ataxia, Cerebellar atrophy, Hypogonadotropic hyp... OMIM:619310
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Small for gestational age, Chor... OMIM:261640
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Arnold-Chiari type I malformation, Ataxia, Bradykinesia, Rigidity OMIM:617836
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Hypoplasia of the corpus callosum, Pontocerebellar atrophy, Eyelid myoclo... OMIM:618060
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Crome Syndrome
Microcephaly, Cerebellar dysplasia OMIM:218900
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Leukoencephalopathy, Rigidity OMIM:603472
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Hypergonadotropic hypogonadism, Chorea, Cerebellar ver... ORPHA:251347
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Truncal ataxia, Ataxia OMIM:614229
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Head titubation, Cerebellar atrop... OMIM:617560
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Cerebellar atrop... OMIM:618598
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebellar ... OMIM:215470
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Azoospermia, Head tremor, Hypergonadotropic hypogonadism, Tor... OMIM:613724
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Microcephaly, Choreoathetosis, Spast... OMIM:612716
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor OMIM:254900
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait... ORPHA:2585
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypoplasia of the corpus callosum, Hypertonia, Abnormal cerebellum morpholog... OMIM:618056
Adult-Onset Autosomal Dominant Leukodystrophy
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Tetraparesis, Head titubation, Spastic gait, Im... ORPHA:99027
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 93
Inability to walk, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Spastic... OMIM:618012
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Gray matter heterotopia ORPHA:370980
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Hypoplasia of the corpus callosum, Babinski sign,... ORPHA:477673
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Xfe Progeroid Syndrome
Poor coordination, Cachexia OMIM:610965
X-Linked Creatine Transporter Deficiency
Chorea, Hypertonia, Ataxia, Cachexia, Athetosis ORPHA:52503
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Ataxia, Cerebellar atrophy, Testicular atrophy OMIM:613909
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Tremor, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngea... OMIM:606159
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:614867
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Ataxia, Cachexia, Choreoathetosis, Spasticity ORPHA:702
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:614487
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal pyrami... OMIM:617951
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance ORPHA:101077
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysdiadochokinesis, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Dysmetria, Int... OMIM:614381
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Infantile Cerebellar-Retinal Degeneration
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Ataxia, Cerebral co... OMIM:614559
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Lewy bodies, At... OMIM:614298
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Microcephaly, Choreoathetosis, Shuffli... OMIM:300055
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Peroxisome Biogenesis Disorder 6B
Abnormal cerebral white matter morphology, Ataxia, Cerebellar atrophy, Distal sensory impairment,... OMIM:614871
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Corpus callosum atrophy, Abnormal cerebral white matter morphology, Abnormal pyramidal si... ORPHA:447753
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Cerebellar atrophy, Babinski sign, Progressive spastic paraplegia OMIM:612020
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Tremor, Gait disturbance, Hypertonia, Cerebral cortical atr... ORPHA:1192
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Vestibular areflexia, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614575
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Cerebral atrophy, Cerebellar atrophy, Limb hypertonia, Choreoathetosis OMIM:618247
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Mcdonough Syndrome
Cachexia ORPHA:2471
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Cerebellar atrophy, Microcephaly, Agenesis of corpus ... OMIM:614833
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebella... OMIM:208920
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Ataxia, Oculomotor apraxia, Dilated fourt... ORPHA:370022
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Cerebellar hypoplasia, Oculomotor apraxia, Cerebellar at... ORPHA:529665
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Ataxia ORPHA:1933
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypertonia, Cachexia, Failure to thrive in infancy, Spasticity OMIM:616801
Intellectual Developmental Disorder, X-Linked 12
Tremor, Abnormal cerebral white matter morphology, Gait disturbance, Cerebellar vermis hypoplasia... OMIM:300957
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Spasticity, Impotence, Ataxia, ... ORPHA:98760
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Di... OMIM:619279
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type