Gene Summary

Name:
unc-5 netrin receptor C
Synonyms:
B130051O18Rik,  Unc5h3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Unc5cem2(IMPC)Rbrc HOM   Early adult 0.00
hypoactivity Unc5cem2(IMPC)Rbrc HET   Early adult 2.21×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Human diseases caused by Unc5c 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Unc5c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia Type 5
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance ORPHA:98766
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Ataxia, Pachygyria, Hypoplasia of the brainstem, Inability to walk, Cerebell... OMIM:618174
Lissencephaly 1
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Hypoplasia of the brainstem, Agyr... OMIM:607432
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Short stature, Periventricular nodular heterotopia, Inability to walk, Cerebellar hypoplasia, Spa... OMIM:618572
Spinocerebellar Ataxia 13
Optic atrophy, Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Morphological a... OMIM:605259
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... ORPHA:171622
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Spinocerebellar Ataxia 43
Rigidity, Tremor, Cerebellar vermis atrophy, Ataxia, Distal sensory impairment, Limb ataxia, Gait... OMIM:617018
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Spinocerebellar Ataxia 10
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Decreased nerve cond... OMIM:603516
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Paresthesia, Abnormality of extrapyramidal motor function, Morph... ORPHA:356
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Spastic Paraplegia 2, X-Linked
Optic atrophy, Babinski sign, Degeneration of the lateral corticospinal tracts, Dysmetria, Spasti... OMIM:312920
Lissencephaly 3
Spastic tetraplegia, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Pachygyria, Polym... OMIM:611603
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Adult Krabbe Disease
Clumsiness, Peripheral demyelination, Prolonged brainstem auditory evoked potentials, Hemiplegia,... ORPHA:206448
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, G... OMIM:616192
Cerebellar hypoplasia with endosteal sclerosis
Ataxia, Short stature, Cerebellar hypoplasia OMIM:213002
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617133
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia OMIM:615771
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spastic Paraplegia 32, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Spastic par... OMIM:611252
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Intellectual Developmental Disorder, Autosomal Recessive 53
Ataxia, Intrauterine growth retardation, Cerebellar hypoplasia OMIM:616917
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Stereotypy, Trem... OMIM:617862
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:615957
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Spastic tetraplegia, Periventricular ribbonlike heterotopia, Hypoplasia o... OMIM:618677
Spastic Paraplegia 62, Autosomal Recessive
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tip-toe gait, Spasticity, Difficulty ... OMIM:615681
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Spinocerebellar Ataxia 8
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Morphologi... OMIM:608768
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Short stature, Dysmetria, Progressive gait ataxia,... ORPHA:284332
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Hypogonadism, Truncal ataxia, Cerebellar hypoplasia, S... OMIM:615768
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Hydrocephalus, Polymicrogyria, Cerebellar hypoplasia, Gray matter heterotopia OMIM:604213
Microlissencephaly
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Hypertonia... ORPHA:1083
Spastic Paraplegia 80, Autosomal Dominant
Gait disturbance, Babinski sign, Ataxia, Spastic paraplegia, Abnormal cerebellum morphology OMIM:618418
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... ORPHA:94122
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Motor axonal neuropathy, Facial palsy, Abnormal pyramidal sign, Sensory axonal neu... OMIM:256850
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Short stature, Dysmetria, Simplified gyral pattern, Intention tremor, Pachygy... OMIM:224050
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ata... OMIM:616291
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Cerebellar atrophy OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Growth delay, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:614322
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity, Premature ovarian insufficiency OMIM:615889
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Limb ataxia, Difficulty walking, Truncal ataxia ORPHA:363432
Spastic Ataxia 9, Autosomal Recessive
Babinski sign, Growth delay, Frequent falls, Cerebellar vermis atrophy, Ataxia, Spasticity, Abnor... OMIM:618438
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia OMIM:611694
Lissencephaly 4
Growth delay, Short stature, Simplified gyral pattern, Hypertonia, Cerebellar hypoplasia, Lissenc... OMIM:614019
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Spastic tetraplegia, Pachygyria, Hypoplasia of the brainstem, Hypertonia, Pol... OMIM:618730
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Spastic tetrapar... OMIM:236792
Lissencephaly 9 With Complex Brainstem Malformation
Involuntary movements, Short stature, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:618325
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Gordon Holmes Syndrome
Infertility, Cerebellar atrophy, Oligomenorrhea, Hypogonadotropic hypogonadism, Ataxia OMIM:212840
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Dystonia, Intrauterine growth retardation, Simplified gyral pattern, Pachy... OMIM:618397
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Short stature, Dysmetria, Intention tremor, Ataxia, Spasticity, G... OMIM:608029
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia OMIM:615705
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... OMIM:611302
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Ataxia, Simplified gyral pattern OMIM:613402
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal neuron morphology, Simplified gyral pattern, Abnormal cerebellum morphology ORPHA:329228
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Short stature, Ataxia, Postnatal growth retardation, Cerebellar hypoplasia OMIM:616113
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Impaired vibration sensation in the lower l... OMIM:610245
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Spastic tetraplegia, Atax... OMIM:256600
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Cerebellar vermis hypoplasia, Ataxia OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Optic atrophy, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Ataxia, Sp... ORPHA:2572
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Cerebellar vermis atrophy, Inability to walk, Ataxia, ... OMIM:619389
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Polymicrogyria, Spasticity OMIM:618973
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Gait disturbance, Cerebellar atrophy, Jerky head movements, Fr... ORPHA:157941
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Gait disturbance, Spastic tetraplegia, Pachygyria, Hypoplasia ... OMIM:614563
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Gray matter heteroto... ORPHA:352682
Spinocerebellar Ataxia Type 43
Cogwheel rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Progressive cerebellar a... ORPHA:497764
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unst... OMIM:213200
Mast Syndrome
Gait disturbance, Babinski sign, Apraxia, Spastic paraplegia, Spastic paraparesis, Abnormal cereb... OMIM:248900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia OMIM:618387
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Cerebellar atrophy OMIM:614706
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Myoclonus, Cerebellar atrophy OMIM:600143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... ORPHA:98763
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... OMIM:617013
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Abnormal cerebellu... OMIM:162350
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Aplasia/Hypoplasia o... ORPHA:79262
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Neurodegeneration With Brain Iron Accumulation
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... ORPHA:385
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Ataxia, Hypertonia, Cerebellar atrophy, Spasticity OMIM:613925
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Developmental And Epileptic Encephalopathy 76
Lower limb spasticity, Inability to walk, Cerebellar atrophy, Upper limb spasticity OMIM:618468
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Spastic ataxia, Progressive spas... ORPHA:496756
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hypoplasia of the cerebe... ORPHA:401820
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Short stature, Oculomotor apraxia, Hypoplasia of the brainstem, Inability to walk, Ataxia, Cerebe... OMIM:618273
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasi... OMIM:614831
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Short stature, Dysmetria, Tremor, Aplasia of the inferior half of the cerebel... OMIM:610185
Spinocerebellar Ataxia 28
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... OMIM:610246
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar cyst, Cerebellar atrophy, Frequent falls, Pachygyria, Tip-toe gait, Gray matter hetero... ORPHA:370980
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity OMIM:617916
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... OMIM:616981
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Hemiparesis, Pachygyria, Cerebellar hypoplasia, Lissencephaly OMIM:610031
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Spinocerebellar Ataxia Type 25
Babinski sign, Impaired distal tactile sensation, Impaired pain sensation, Diffuse cerebellar atr... ORPHA:101111
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Postural tremor, Dystonia, Kinetic tremor, Chorea, Abnormal substanti... ORPHA:98756
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Truncal ataxia OMIM:611726
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Ataxia-Tapetoretinal Degeneration Syndrome
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia ORPHA:1178
Lissencephaly 5
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Spastic paraplegia, Cerebellar ve... OMIM:615191
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... OMIM:605361
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Spinocerebellar Ataxia Type 26
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... ORPHA:101112
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Ataxia, Inability to walk, Tetraparesis, Tongue fasciculations, Spa... OMIM:618276
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Babinski sign, Cerebellar atrophy, Degeneration of the lateral corticospinal tract... OMIM:607259
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebellar atrophy, Growth delay, Spasticity OMIM:617899
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Choreoathetosis OMIM:301020
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... OMIM:617633
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign, Atrophy of the dentate nucleus OMIM:125370
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Cerebellar atrophy, Perisylvian polymicrogyria, Hypoplasia of the pons, Hemipar... ORPHA:300573
Joubert Syndrome 24
Gait disturbance, Dysmetria, Pachygyria, Ataxia, Polymicrogyria, Cerebellar hypoplasia, Spasticity OMIM:616654
Intellectual Developmental Disorder, Autosomal Recessive 69
Ataxia, Cerebellar hypoplasia OMIM:618383
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Cerebellar atrophy, Postnatal growth retardation, Short stature OMIM:608278
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Simplified gyral pattern, Hemiparesis, Spastic tetraparesis, P... OMIM:604317
Nescav Syndrome
Babinski sign, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Spasticity OMIM:614255
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility ORPHA:276183
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... OMIM:616719
Spinocerebellar Ataxia 25
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense OMIM:608703
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Hy... OMIM:220200
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Polymicrogyria, Bilateral Frontoparietal
Babinski sign, Perisylvian polymicrogyria, Dysmetria, Hypoplasia of the pons, Hypoplasia of the b... OMIM:606854
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia OMIM:615217
Camos Syndrome
Ataxia, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Spast... ORPHA:83472
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Cerebellar atrophy OMIM:618741
Ataxia-Oculomotor Apraxia 4
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia OMIM:616267
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia OMIM:619303
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Axonal loss, Frequent falls, Dysmetria, Spastic dysarthria, Progressiv... ORPHA:1175
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Stereotypy, Ataxia, Hydrocephalus, Attention deficit hyperacti... OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Spasticity, Gait ataxia OMIM:618369
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Babinski sign, Cerebellar atrophy, Short stature, Waddling gait, Spasticity OMIM:619090
Autosomal Recessive Spastic Paraplegia Type 74
Babinski sign, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking ORPHA:468661
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Molar tooth sign on MRI, Gray matter heterotopia, ... OMIM:617622
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Growth delay, Ataxia, Spasticity, Difficulty walking, Abnormal cerebellum morphology OMIM:618242
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Short stature, Frequent falls, Torticollis, Dysmetria,... ORPHA:397946
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oc... OMIM:615960
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Cerebellar atrophy OMIM:615596
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Intrauterine growth retardation, Spastic tetraplegia, Pachygyria, A... OMIM:615411
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Slurred speech, Cerebellar atrophy, Gait ataxia OMIM:619323
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... OMIM:616204
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis OMIM:256731
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Hypop... ORPHA:101070
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... ORPHA:370022
Spinocerebellar Ataxia Type 17
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... ORPHA:98759
Dystonia 31
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... OMIM:619565
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Spastic tetraplegia, Tetraplegia, Morphological abnormality of the corticospinal t... OMIM:607225
Leukodystrophy, Hypomyelinating, 6
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Short stature, Tremor, Ataxia, Spasticity OMIM:612438
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Spasticity, Gray matter heterotopia, Li... OMIM:300067
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Dysmetria, Lower limb spasticity, In... ORPHA:98
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Cerebellar atrophy, Dysmetria, Spastic ataxia, Spasticity, Gait ataxia OMIM:611390
Microcephaly 5, Primary, Autosomal Recessive
Simplified gyral pattern, Attention deficit hyperactivity disorder, Short stature, Cerebellar hyp... OMIM:608716
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Short stature, Dilated fourth ventricle, Dysmetria, ... ORPHA:1170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Babinski sign, Short stature, Pachygyria, Hypoplasia of the br... OMIM:608840
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Ataxia, Distal sensory impairment, Cerebellar atrophy OMIM:607250
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Gait ataxia OMIM:618501
Friedreich Ataxia 2
Babinski sign, Abnormality of the medulla oblongata, Abnormality of the dorsal column of the spin... OMIM:601992
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina... ORPHA:945
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Short stature, Simplified gyral pattern, Hypoplasia of the brainstem, Spastic... OMIM:617090
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... OMIM:618317
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... OMIM:617560
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... OMIM:606183
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... ORPHA:139485
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gai... OMIM:618093
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... ORPHA:71517
Gómez-López-Hernández Syndrome
Short stature, Impaired pain sensation, Abnormal brainstem morphology, Cerebellar vermis hypoplas... ORPHA:1532
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Dystonia 16
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... OMIM:612067
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Dystonia 9
Dystonia, Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodi... OMIM:601042
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy OMIM:610003
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar verm... ORPHA:401830
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ataxia, Progressive cerebel... ORPHA:247815
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Hyperactivi... ORPHA:248111
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Morphological abnormality of the pyramidal tract, Abnormal pyramidal sign OMIM:301840
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Iron accumulation in substantia nig... ORPHA:329284
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... ORPHA:208513
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Aminoacylase 1 Deficiency
Hyperactivity, Cerebellar atrophy OMIM:609924
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Spasticity, Cerebellar atrophy, Spastic tetraplegia OMIM:617207
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Ataxia, Cerebellar atrophy OMIM:618879
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Cerebellar hypoplasia ORPHA:171703
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... OMIM:300894
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ataxia, Cerebella... ORPHA:314603
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Inability to walk, Hypoplasia of the brainstem, Cerebellar atrophy OMIM:618324
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Babinski sign, Growth delay, Progressive truncal ataxia, Short stature, Dysmetria, Diffuse cerebe... ORPHA:363429
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Inability to walk, Cerebellar atrophy, Spasticity OMIM:617086
3-Methylglutaconic Aciduria, Type Vii
Cerebellar atrophy, Growth delay, Abnormality of extrapyramidal motor function, Spasticity, Abnor... OMIM:616271
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Cerebellar hypoplasia, Apraxia, Spastic... OMIM:617810
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Joubert Syndrome 32
Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Polymicrogyria, Abnormal cerebellum morphology OMIM:617757
Ataxia-Telangiectasia-Like Disorder
Dystonia, Cerebellar atrophy, Short stature, Frequent falls, Dilated fourth ventricle, Dysmetria,... ORPHA:251347
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia, Lethargy ORPHA:30925
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Huntington Disease
Clumsiness, Gait disturbance, Dystonia, Clonus, Gait imbalance, Involuntary movements, Polyphagia... ORPHA:399
Meckel Syndrome 13
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia OMIM:617562
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unstead... OMIM:617435
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Babinski sign, Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, S... ORPHA:445062
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Cerebellar verm... ORPHA:453521
Fatty Acyl-Coa Reductase 1 Deficiency
Dandy-Walker malformation, Cerebellar atrophy, Growth delay, Short stature, Spastic tetraparesis,... ORPHA:438178
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... ORPHA:33445
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficulty walking OMIM:619425
Autosomal Recessive Spastic Paraplegia Type 39
Babinski sign, Cerebellar atrophy, Motor axonal neuropathy, Lower limb spasticity, Atrophy of the... ORPHA:139480
Microcephaly 13, Primary, Autosomal Recessive
Simplified gyral pattern, Short stature, Intrauterine growth retardation, Cerebellar hypoplasia OMIM:616051
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Morphol... OMIM:613135
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Cerebellar atrophy, Azoospermia, Ataxia OMIM:613909
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Fasciculations, Ataxia, Cerebellar hypoplasia, Hypoplasia of the ventral ... OMIM:607596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... OMIM:613153
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Dystonia, Cerebellar atrophy, Short stature, Spastic dysarthria, Stereotypy, Waddl... ORPHA:280763
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Cerebellar atrophy, Upper limb spasticity, Infe... OMIM:614409
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Gait disturbance, Babinski sign, Tremor, Tip-toe gait, Abnormal brainstem MRI signal intensity, M... ORPHA:83629
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Babinski sign, Cerebellar atrophy, Ataxia, Progressive spastic paraplegia OMIM:612020
Congenital Disorder Of Glycosylation, Type Iii
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Truncal ataxia, Short stature OMIM:613612
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Head tremor, Titubation, Gait ataxia, Somatic sensory dysfunction ORPHA:98771
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:614229
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Atrophy/Degenerat... OMIM:618404
Lissencephaly 2
Hypoplasia of the pons, Lissencephaly, 4-layered lissencephaly, Cerebellar hypoplasia OMIM:257320
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebellar atrophy OMIM:610951
Pontocerebellar Hypoplasia, Type 2D
Chorea, Clonus, Cerebellar atrophy, Spastic tetraplegia OMIM:613811
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Cerebellar atrophy, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing,... OMIM:618917
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Impaired distal proprioception, Steppage gait, Spastic dysarthria, Impaired vibration sensation i... ORPHA:94124
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Cerebellar atrophy, Tremor, Inability to walk, Oculogyric crisis, Delayed menarche, Dif... ORPHA:330050
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Friedreich Ataxia And Congenital Glaucoma
Babinski sign, Abnormality of the medulla oblongata, Abnormality of the dorsal column of the spin... OMIM:229310
Band Heterotopia
Subcortical band heterotopia, Hydrocephalus, Polymicrogyria, Spasticity, Gray matter heterotopia OMIM:600348
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Babinski sign, Choreoathetosis, Dilated fourth ventricle, Torticollis, Frequent falls, Cerebellar... OMIM:619054
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia OMIM:616657
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Impaired proprioception, Babinski sign, Abnormality of the medulla oblongata, Abnormality of the ... OMIM:302900
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Jerky head movements, Spastic gait, Spastic dys... ORPHA:251282
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Babinski sign, Impaired vibration sensation at ankles, Cerebellar atro... ORPHA:320391
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Spastic tetraplegia, Pachygyria, Agyria, Gray matter heterotopia OMIM:615412
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Cerebellar vermis atrophy, Progre... ORPHA:98773
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Facial palsy, Truncal ti... OMIM:607483
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brains... OMIM:612319
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... ORPHA:93952
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Ataxia, Cerebellar hypoplasia ORPHA:2246
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autosomal Dominant Spastic Paraplegia Type 8
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, S... ORPHA:100989
Episodic Ataxia Type 6
Slurred speech, Ataxia, Cerebellar atrophy, Hemiplegia ORPHA:209967
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... OMIM:609307
Pontocerebellar Hypoplasia, Type 14
Dystonia, Hypoplasia of the pons, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of th... OMIM:619301
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Hand tremor, Para... OMIM:302800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Intrauterine growth retardation, Short stature OMIM:618541
Spastic Paraplegia 20, Autosomal Recessive
Babinski sign, Knee clonus, Cerebellar atrophy, Upper limb spasticity, Short stature, Dysmetria, ... OMIM:275900
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Large for gestational age ORPHA:356996
Huntington Disease-Like 3
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Spasticity, Morphological... OMIM:604802
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Ataxia, Spasticity OMIM:618088
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
4H Leukodystrophy
Dystonia, Cerebellar atrophy, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Abnormalit... ORPHA:289494
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ata... OMIM:215470
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romb... OMIM:607136
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,... ORPHA:79263
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Absent pubertal growth spurt, Gait ataxia, Short stature ORPHA:438134
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Amyotrophic Lateral Sclerosis 8
Postural tremor, Amyotrophic lateral sclerosis, Morphological abnormality of the pyramidal tract,... OMIM:608627
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... ORPHA:280234
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar t... OMIM:609583
Ataxia-Pancytopenia Syndrome
Babinski sign, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Impaired vibration sensa... OMIM:159550
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... ORPHA:137898
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Gait disturbance, Short stature, Tremor, Cerebellar vermis hyp... OMIM:300957
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Polyphagia ORPHA:71529
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Babinski sign, Dystonia, Cerebellar atrophy, Short stature, Dysmetria, Hypogonad... OMIM:607694
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Limb hypertonia, Microlissencephaly, Periventricular heterotopia, Simplified ... OMIM:616212
Multiple Mitochondrial Dysfunctions Syndrome 6
Dystonia, Cerebellar atrophy, Dysmetria, Ataxia, Spasticity OMIM:617954
Spastic Paraplegia 26, Autosomal Recessive
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... OMIM:609195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Polymicrogyria, Cer... OMIM:615181
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Dysmetria, Cerebellar atrophy, Gait ataxia, Short stature ORPHA:320385
Leber Congenital Amaurosis
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis, Hemiplegia/hemipa... ORPHA:65
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Involuntary movements, Dystonia, Cerebellar atrophy, Chorea, Ataxia, Inability to walk OMIM:617804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia OMIM:613155
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Cerebellar atrophy, Short stature, Simplified gyral pattern OMIM:616171
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... OMIM:618598
Autosomal Dominant Spastic Paraplegia Type 19
Impaired proprioception, Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts,... ORPHA:100999
Parkinson-Dementia Syndrome
Parkinsonism, Rigidity, Tremor, Morphological abnormality of the pyramidal tract, Abnormal pyrami... OMIM:260540
Immunodeficiency 8
Hyperactivity OMIM:615401
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Fasciculations, Intention tremor, ... OMIM:615491
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Dyskeratosis Congenita, Autosomal Recessive 6
Ataxia, Intrauterine growth retardation, Cerebellar hypoplasia OMIM:616353
Spinocerebellar Ataxia Type 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Atrophy/Degeneration a... ORPHA:458803
Peho-Like Syndrome
Cerebellar atrophy, Myoclonus, Pachygyria, Polymicrogyria, Lissencephaly OMIM:617507
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor... OMIM:617672
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Clonus, Cerebellar atrophy, Limb hypertonia, Opisthotonus, Babinski sign, Chorea, Extra... OMIM:612389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoplasia of the pons, Inability to walk, Ataxia, Cerebellar hypoplasia OMIM:615350
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Cerebellar atrophy, Broad-based gait, Stereotypy OMIM:301029
Spinocerebellar Ataxia Type 1
Postural tremor, Impaired proprioception, Gait disturbance, Cerebellar atrophy, Gait imbalance, D... ORPHA:98755
Autosomal Dominant Spastic Paraplegia Type 37
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Spas... ORPHA:171612
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation, Periventricular heterotopia, Pachygyria, Hypoplasia of the brain... ORPHA:255138
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Hyperac... ORPHA:228360
Pontocerebellar Hypoplasia, Type 15
Dystonia, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainstem, Hypertonia,... OMIM:619302
Spinocerebellar Ataxia, Autosomal Recessive 28
Short stature, Truncal titubation, Cerebellar vermis hypoplasia, Poor fine motor coordination, Ab... OMIM:618800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Poor coordination, Decreased nerve conduction velocity, Impaired vibratory sensation, Spa... OMIM:238970
Autosomal Dominant Spastic Paraplegia Type 42
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Spas... ORPHA:171863
Autosomal Recessive Spastic Paraplegia Type 78
Dystonia, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Progressive extrapyram... ORPHA:513436
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Cerebellar atrophy, Short stature OMIM:618006
Familial Congenital Mirror Movements
Clumsiness, Cerebral palsy, Morphological abnormality of the corticospinal tract, Poor fine motor... ORPHA:238722
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Cerebellar hypoplasia, Spasticity, Gai... ORPHA:529665
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Cerebellar atrophy, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia, D... OMIM:614487
Spinocerebellar Ataxia Type 8
Dystonia, Cerebellar atrophy, Rigidity, Hypoplasia of the pons, Spastic dysarthria, Bradykinesia,... ORPHA:98760
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem g... OMIM:300623
Leukodystrophy, Hypomyelinating, 21
Athetosis, Dystonia, Cerebellar atrophy, Growth delay, Hypogonadotropic hypogonadism, Ataxia, Tet... OMIM:619310
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Congenital Disorder Of Glycosylation, Type Iin
Inability to walk, Cerebellar atrophy, Short stature OMIM:616721
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature, Hypogonadism OMIM:312910
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive spasticity, Dystonia, Cerebellar atrophy, Head titubation, Ataxia, Abnormal pyramidal... ORPHA:527497
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Growth delay OMIM:300804
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Cerebellar atrophy, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Distal sensory... OMIM:208920
Ataxia-Telangiectasia-Like Disorder 1
Dystonia, Cerebellar atrophy, Frequent falls, Chorea, Lower limb spasticity, Oculomotor apraxia, ... OMIM:604391
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Fasciculations, Intention tremor, Progres... ORPHA:284289
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Paresthesia, Frequent falls, Intention tremor, Progressive cerebellar ataxia, Cerebellar vermis a... ORPHA:466794
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Spasticity OMIM:618185
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Loss of Purkinje cells in the cerebellar v... ORPHA:276198
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Disproportionate short-l... ORPHA:2772
Central Diabetes Insipidus
Failure to thrive, Weight loss, Polydipsia, Lethargy ORPHA:178029
Familial Paroxysmal Ataxia
Dystonia, Torticollis, Cerebellar vermis atrophy, Ataxia, Hemiplegia ORPHA:97
Aicardi-Goutieres Syndrome 1
Dystonia, Abnormality of extrapyramidal motor function, Inability to walk, Spasticity, Morphologi... OMIM:225750
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Short stature, Stereotypy OMIM:300271
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Dysmetria, Ataxia, Cerebellar atrophy, Broad-based gait OMIM:618098
Obesity Due To Sim1 Deficiency
Obesity, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Stereotypy OMIM:613886
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Hydrocephalus, Spasticity, Spastic paraplegia, Agenesis of corpus... OMIM:307000
Familial Infantile Myoclonic Epilepsy
Clumsiness, Gait disturbance, Cerebellar atrophy, Limb myoclonus, Periventricular nodular heterot... ORPHA:352582
Ataxia-Pancytopenia Syndrome
Gait disturbance, Cerebellar atrophy, Aplasia/Hypoplasia of the cerebellum, Ataxia, Unsteady gait ORPHA:2585
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Cerebellar atrophy, Intrauterine growth retardation, Microliss... ORPHA:89844
Developmental And Epileptic Encephalopathy 47
Gait disturbance, Limb ataxia, Cerebellar atrophy, Inability to walk OMIM:617166
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71526
Crome Syndrome
Cerebellar dysplasia, Short stature OMIM:218900
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Cerebellar atrophy, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ataxi... ORPHA:313772
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Pontocerebellar atrophy, Tremor, Oculomotor apraxia, Eyelid myoclonus, Ataxia, Incoordination, Ce... OMIM:618060
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Pseudobulbar paralysis, Amyotrophic lateral scl... OMIM:105400
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria, Spasticity ORPHA:1084
Spastic Paraplegia 75, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic dysarthria, Spastic paraparesis OMIM:616680
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Babinski sign, Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign OMIM:616479
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Short stature, Cerebellar dysplasia, Stereotypy, Tremor,... ORPHA:457240
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... ORPHA:275872
Joubert Syndrome 17
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia OMIM:614615
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Babinski sign, Cerebellar atrophy, Dysmetria, Intention tremor, Distal sensory impairment, Ataxia... OMIM:612674
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Cerebellar atrophy, Dysmetria, Myoclonus, Intention tremor, Ataxia, Hypertonia, Dy... OMIM:618356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia OMIM:614830
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Myoclonus, Ataxia, Hypertonia, Spasticity OMIM:618426
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Positive Romberg sign, Ataxia, Limb ataxia, Gait ataxia OMIM:614575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Anencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hy... OMIM:615287
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dilated fourth ventricle, Dysmetria, Myoclonus, Bradykinesia, Fascicul... OMIM:183090
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Short stature, Stereotypy OMIM:614063
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Intention tremor, At... OMIM:614381
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Steppage gait, Myoclonus, Inten... OMIM:616505
Perrault Syndrome 1
Cerebellar atrophy, Short stature, Spastic diplegia, Primary amenorrhea, Gait ataxia OMIM:233400
Spinocerebellar Ataxia Type 13
Clumsiness, Cerebellar atrophy, Short stature, Torticollis, Myoclonus, Bradykinesia, Impaired dis... ORPHA:98768
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Intrauterine growth retardation, Spastic tetraplegia, Spasticity, Limb dystonia OMIM:619125
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Stereotypy, ... OMIM:617751
East Syndrome
Cerebellar atrophy, Polydipsia, Salt craving, Ataxia, Inability to walk, Action tremor, Difficult... ORPHA:199343
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Truncal titubation, Intention tremor, Loss of ability to walk, Inability to walk, ... OMIM:610532
Spinocerebellar Ataxia 36
Babinski sign, Cerebellar atrophy, Fasciculations, Ataxia, Hypertonia, Incoordination, Truncal at... OMIM:614153
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dy... ORPHA:420492
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Filippi Syndrome
Dystonia, Intrauterine growth retardation, Cerebellar atrophy, Postnatal growth retardation OMIM:272440
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia, Abnormal cere... OMIM:618056
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Polyphagia OMIM:275000
Developmental And Epileptic Encephalopathy 5
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic tetraplegia OMIM:613477
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... OMIM:600363
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia ORPHA:85317
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb spastic... ORPHA:444099
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Decreased number ... OMIM:270550
Galloway-Mowat Syndrome 2, X-Linked
Cerebellar atrophy, Intrauterine growth retardation, Short stature, Dysmetria, Polymicrogyria, Sp... OMIM:301006
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spinocerebellar Ataxia 47
Short stature, Dysmetria, Chorea, Cerebellar vermis atrophy, Ataxia, Spasticity OMIM:617931
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Hypoplasia of the pons, Rhombencephalos... ORPHA:280195
Spinocerebellar Ataxia Type 10
Babinski sign, Cerebellar atrophy, Kinetic tremor, Gait imbalance, Dysmetria, Lower limb spastici... ORPHA:98761
Leukodystrophy, Hypomyelinating, 20
Dystonia, Babinski sign, Cerebellar atrophy, Torticollis, Spastic tetraplegia, Hypertonia OMIM:619071
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Cogw... OMIM:607454
Machado-Joseph Disease Type 3
Clumsiness, Dystonia, Babinski sign, Cerebellar atrophy, Peripheral axonal neuropathy, Dilated fo... ORPHA:276244
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Gray matter heterotopia, Clonus, Dilated fourth ventricle, Hypoplasia of the pon... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Lissencephaly Type Iii And Bone Dysplasia
Hypoplasia of the brainstem, Akinesia, Microlissencephaly, Agenesis of cerebellar vermis OMIM:601160
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Intrauterine growth retardation, Short stature, Aplasia/Hypopl... ORPHA:2518
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age OMIM:248100
Leber Congenital Amaurosis 2
Cerebellar vermis hypoplasia, Eye poking OMIM:204100
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Tongue thrusting, Cerebel... ORPHA:77299
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Spastic gait, Lower... OMIM:604360
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Substantia nigra gliosis, Parkinsonism OMIM:600116
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations OMIM:615048
Spastic Paraplegia 8, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, Spastic g... OMIM:603563
Developmental And Epileptic Encephalopathy 93
Spastic tetraparesis, Gait disturbance, Inability to walk, Cerebellar atrophy OMIM:618012
Jaberi-Elahi Syndrome
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Tremor, Inability to walk, Spasticity, ... OMIM:617988
Gerstmann-Straussler Disease
Cerebellar atrophy, Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticit... OMIM:137440
6Q16 Microdeletion Syndrome
Obesity, Broad-based gait, Polyphagia, Poor coordination ORPHA:171829
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Cerebellar hypoplasia, Gait disturbance, Infertility, Hand tremor, Speec... ORPHA:412057
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:300861
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Spasticity, Polymicrogyria, Subcortical heterotopia ORPHA:101029
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Short stature, Tremor, Aplasia/Hypoplasia of the cerebellum, Hypertonia ORPHA:1192
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Impaired proprioception, Paresthesia, Dorsal column de... OMIM:164400
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hypertonia, Cerebellar atrophy, Intrauterine growth retardation OMIM:614654
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Glutathionuria
Tremor OMIM:231950
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia OMIM:608097
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Christianson Syndrome
Dystonia, Cerebellar atrophy, Stereotypy, Aplasia/Hypoplasia of the cerebellum, Truncal ataxia, G... ORPHA:85278
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Tremor, Ataxia, Hypertonia, Inability to walk, Cerebellar hypoplasia, Attention deficit hyperacti... OMIM:619556
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Hydrocephalus, Broad-based gait, Elbow f... OMIM:619470
Tremor-Ataxia-Central Hypomyelination Syndrome
Clumsiness, Postural tremor, Babinski sign, Dystonia, Impaired distal proprioception, Short statu... ORPHA:447896
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Autosomal Recessive Ataxia, Beauce Type
Clumsiness, Gait disturbance, Arm dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Atrophy... ORPHA:88644