Gene Summary

Name:
F-box protein 41
Synonyms:
D6Ertd538e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Fbxo41tm1.1(KOMP)Vlcg HOM   Early adult 3.75×10-05
increased startle reflex Fbxo41tm1.1(KOMP)Vlcg HOM   Early adult 8.32×10-05
abnormal auditory brainstem response Fbxo41tm1.1(KOMP)Vlcg HOM   Early adult 1.75×10-05
increased kidney weight Fbxo41tm1.1(KOMP)Vlcg HOM   Early adult 1.63×10-05
hyperactivity Fbxo41tm1.1(KOMP)Vlcg HOM   Early adult 2.83×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 33.33% (1 of 3)
Brain  Wholemount images heterozygote 33.33% (1 of 3)
Cerebellum  Wholemount images  Section images heterozygote 100% (3 of 3)
Colon  Section images heterozygote 100% (3 of 3)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Eye  Section images heterozygote 66.67% (2 of 3)
Midbrain  Wholemount images  Section images heterozygote 100% (3 of 3)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (3 of 3)
Pituitary gland  Wholemount images heterozygote 33.33% (1 of 3)
Prostate gland  Section images heterozygote 33.33% (1 of 3)
Spinal cord  Wholemount images  Section images heterozygote 100% (3 of 3)
Testis  Section images heterozygote 33.33% (1 of 3)
Trigeminal V nerve  Section images heterozygote 66.67% (2 of 3)
Urinary bladder  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 3)
Jejunum N/A heterozygote 0.0% (0 of 3)
Kidney N/A heterozygote 33.33% (1 of 3)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

35 Images

Adult LacZ

LacZ Images Wholemount

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Fbxo41 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 Fbxo41 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Action tremor, Ataxia, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Pachygyria, Cerebellar hypoplasia, Ataxia, Spastic tetraplegia OMIM:618174
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Progressive gait ataxia, Difficulty walking, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Broad-based gait, Nonprogre... ORPHA:94122
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... ORPHA:363710
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Spastic paraplegia, Cerebellar hypoplasia, Short stature, Periventricular nodu... OMIM:618572
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... OMIM:616291
Autosomal Recessive Spastic Paraplegia Type 32
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... ORPHA:171622
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia, Polymicrogyria, Spasti... OMIM:611603
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... OMIM:615768
Leukodystrophy, Hypomyelinating, 11
Tremor, Cerebellar atrophy, Ataxia, Spasticity OMIM:616494
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Ataxia, Agyria, Lissencephaly,... OMIM:300067
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Myoclonus, Ataxia OMIM:616187
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Spastic tetraparesis, Cerebellar hypoplasia, Agyria, Subcort... OMIM:607432
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypertonia, Spastic tetraparesis, Hemiparesis, Abnormality o... OMIM:604317
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Cer... OMIM:615362
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Cerebellar atrophy, Lower limb sp... OMIM:616948
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebellar atrophy, Stereotypy, Short stature OMIM:617862
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Dystonia, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Short stature, ... OMIM:608029
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:607458
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Pachygyria, Cerebellar hypoplasia, Cerebellar at... OMIM:224050
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Spastic tetraplegia, Agyria, Intrauterine growth retardation... OMIM:615411
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... OMIM:613908
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spinocerebellar Ataxia, Autosomal Recessive 24
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy OMIM:617133
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormality of neuronal migration, Stereotypy, Hydrocephalus, Attention deficit hyperacti... OMIM:618709
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
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
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Spinocerebellar Ataxia Type 5
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy ORPHA:98766
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Ataxia, Action tremor, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cer... ORPHA:98763
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 12
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Cerebellar atrophy, Babinski sign, Spasticity OMIM:614322
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Polymicrogyria, Cerebellar hypoplasia, Ataxia OMIM:615771
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... OMIM:614831
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia, Short stature OMIM:616113
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... OMIM:604326
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Gait ataxia, Babinski sign, Short stature OMIM:616192
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis OMIM:611694
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypertonia, Cerebellar hypoplasia, Spastic tetraplegia, Periventricular ribbonlike heterotopia, L... OMIM:618677
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Spastic tetraplegia, Agyria, Subcortical band heterotopia OMIM:615412
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Ataxia, Hyperactivity OMIM:613402
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
Symmetrical Thalamic Calcifications
Hypertonia, Ataxia, Abnormality of neuronal migration, Failure to thrive, Spasticity ORPHA:1314
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Tetraparesis, Ataxia, Cerebellar atrophy, Failure to thrive, Tongue ... OMIM:618276
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... ORPHA:284324
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Cerebellar atrophy, Impaired tandem gait, Lower limb spasticity, Myoclonus, Dysme... OMIM:619028
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Cerebellar atrophy, M... OMIM:614860
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... OMIM:616719
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebellar Purkinje layer atrophy, Chorea... ORPHA:98756
Spinocerebellar Ataxia 46
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria OMIM:617770
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Cerebellar atrophy, Parkinsonism,... OMIM:617013
Immunodeficiency 8
Hyperactivity OMIM:615401
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... ORPHA:1175
Chudley-Mccullough Syndrome
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria, Hydrocephalus OMIM:604213
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Gait ataxia, Cerebellar atrophy, Ataxia OMIM:615705
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Tetraparesis, Failure to thrive, Periventricular heterotopia OMIM:608097
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Spastic gait, Lower limb spasticity, Aplasia/Hypoplasia of the c... ORPHA:401820
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance, Normal pressure hydrocephalus OMIM:611808
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... ORPHA:512260
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Arnold-Chiari type I malformation, Bradykinesia, Ataxia, Short stature, Rigidity OMIM:617836
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Cerebellar atrophy, ... ORPHA:521406
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ataxia, Ankle clonus, Spastic gait, Cerebellar atrophy, Lower limb spasticity... OMIM:610357
Autosomal Spastic Paraplegia Type 58
Fasciculations, Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramida... ORPHA:397946
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebellar atrophy, Myoclonus, Choreoathetosi... OMIM:616981
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Cerebellar atrophy, Spastic gait... OMIM:607565
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction, Difficulty walking, Abnormal motor evoked potentials, Atax... ORPHA:320401
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, ... ORPHA:248111
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Spasticity OMIM:618185
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Joubert Syndrome 24
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Dysmetria, Spasticity OMIM:616654
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Myoclonus, Ataxia OMIM:600143
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Cerebellar atrophy, Short stature, Choreoathetosis, Spasticity OMIM:612438
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... ORPHA:385
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... OMIM:164500
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:617810
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... OMIM:617633
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Spinocerebellar Ataxia 28
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... OMIM:610246
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Action tremor, Bradykinesia, Cerebellar atrophy, Parkinsonism, Babinsk... OMIM:300423
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Hyperkinetic movements, Abnormality of ne... OMIM:300957
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Spinocerebellar Ataxia 14
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... OMIM:605361
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Cereb... OMIM:600224
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Cerebellar atrophy... ORPHA:71517
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy ORPHA:284271
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Spasticity, Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Truncal ataxia, Ataxia OMIM:617584
Band Heterotopia
Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Hydrocephalus, Spasticity OMIM:600348
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Difficulty walking, Cerebellar cyst, Toe walking, Cerebellar... ORPHA:370980
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Cerebe... ORPHA:98
Neurodegeneration With Brain Iron Accumulation 7
Loss of ability to walk, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:617916
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Abnormal cerebellar vermis morphology, Rigidit... ORPHA:33445
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Dense calcifications in the cerebellar dent... OMIM:213600
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordination, Ataxia, Brady... OMIM:615157
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Short stature, Obesity OMIM:614947
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... OMIM:607136
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Small for gestational a... OMIM:619054
Spinocerebellar Ataxia Type 26
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... ORPHA:101112
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... ORPHA:251347
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 8
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:610743
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Frequent falls, Difficulty walking, Paraparesis, Gait disturbance, Toe wa... OMIM:302800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Sub-Cortical Nodular Heterotopia
Spasticity, Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, H... ORPHA:137898
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Growth delay OMIM:278780
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Cerebe... ORPHA:79263
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria OMIM:256731
Glutathionuria
Tremor OMIM:231950
Mental Retardation, Autosomal Dominant 13
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Abnormality of neuronal migration, Spastic t... OMIM:614563
Polymicrogyria, Bilateral Frontoparietal
Truncal ataxia, Hypoplasia of the pons, Hypertonia, Cerebellar hypoplasia, Ankle clonus, Frontal ... OMIM:606854
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Dysdiadochokinesis, Diffuse cerebellar atrophy, Spastic dysarthria, Progressive gait ataxia, Diff... ORPHA:363429
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Hyperprolinemia, Type I
Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, EEG abnormality, Hyperactivity OMIM:239500
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Unsteady gait, Dysmetria OMIM:614867
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Cerebellar hypoplasia, Oculomotor apraxia, Ataxia, Unsteady gait, Short stature OMIM:618273
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor OMIM:254900
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Head tremor, Upper limb spasticity, Knee clonus, Ankle clonus... OMIM:614409
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Head titubation, Cerebellar atrop... OMIM:617560
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... OMIM:606183
Spinocerebellar Ataxia Type 17
Dystonia, Cerebellar Purkinje layer atrophy, Chorea, Gait disturbance, Abnormal pyramidal sign, B... ORPHA:98759
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... OMIM:600363
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Spinocerebellar Ataxia 26
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy OMIM:609306
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar atrophy, Dysmetria, Spasticity OMIM:611390
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Ataxia, ... OMIM:617672
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... OMIM:617435
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Bradykinesia, Ataxia, Parkinsonism, Small for gestational... OMIM:261640
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem a... ORPHA:52368
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria, Intention tremo... OMIM:618356
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atroph... OMIM:608768
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Exaggerated star... OMIM:618598
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Short stature, Ataxia ORPHA:1368
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Myopathy With Extrapyramidal Signs
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Pachygyria, Gray matter heterotopia, Hemiparesis, Polymicrogyria, Cerebellar at... ORPHA:300573
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Lissencephaly 5
Spastic paraplegia, Type II lissencephaly, Gray matter heterotopia, Cerebellar vermis hypoplasia,... OMIM:615191
Urocanase Deficiency
Tremor, Short stature, Ataxia OMIM:276880
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Autosomal Recessive Spastic Paraplegia Type 46
Truncal ataxia, Reduced sperm motility, Head tremor, Impaired vibration sensation at ankles, Diff... ORPHA:320391
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Impaired vibration sensation at ankles, Limb ataxia, Difficult... ORPHA:98772
Huntington Disease
Gait ataxia, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity OMIM:143100
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Weight loss, Cerebellar ... OMIM:137440
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebella... OMIM:208920
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Postnatal growth retardation, Ataxia, My... ORPHA:391417
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Growth delay, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spast... OMIM:612716
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasia, Dysgyria, Hydrocephalus ORPHA:352682
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Cerebellar atrophy, Dysmetria, Failure to thriv... OMIM:617988
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Cerebellar hypoplasia, Oculomotor apraxia, Cerebellar at... ORPHA:529665
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Cerebellar atrophy, Ataxia, Distal sensory impairment OMIM:607250
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Maternal Hyperthermia-Induced Birth Defects
Intrauterine growth retardation, Hypertonia, Short stature, Abnormality of neuronal migration ORPHA:2216
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Sensory ataxia, Gait ataxia, Decreased body weight, Cerebellar atrophy, Babinski sign, Short stature ORPHA:445062
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Tremor, Gait ataxia, Apraxia, Gait disturbance,... ORPHA:3095
Ataxia-Pancytopenia Syndrome
Ataxia, Ankle clonus, Unsteady gait, Cerebellar atrophy, Impaired vibration sensation in the lowe... OMIM:159550
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis, Cerebellar atrophy, D... ORPHA:330050
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria ORPHA:98771
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... ORPHA:306692
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Huntington Disease-Like 2
Dystonia, Chorea, Action tremor, Bradykinesia, Weight loss, Rigidity OMIM:606438
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Dystonia, Ataxia, Delayed puberty, Abnormal cerebellum morphology, Cerebellar at... OMIM:607694
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Difficulty walking, Cerebellar hypoplasia, Ataxia, Lower limb spasticity, Macr... ORPHA:280210
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Leukodystrophy, Hypomyelinating, 21
Dystonia, Growth delay, Tetraparesis, Ataxia, Cerebellar atrophy, Failure to thrive, Athetosis OMIM:619310
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Cerebellar atrophy, Dysm... OMIM:615491
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Intention tremor, Hypertonia, Ataxia, Cerebellar atrophy, Cerebellar gliosis... OMIM:616505
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Gait disturbance, Slurred speech, Bradykin... ORPHA:98755
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, A... OMIM:300623
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Cerebellar hypoplasia, Ataxia, Decreased body weight, In... ORPHA:255138
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ocu... OMIM:615960
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Ataxia, Hyperactivity OMIM:300983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration, Babinski sign, Short stature OMIM:608840
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Cerebellar atrophy, Parkinsonism, Rigidity ORPHA:329284
Leukodystrophy, Hypomyelinating, 15
Inability to walk, Dystonia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Short stature, ... OMIM:617951
Boucher-Neuhauser Syndrome
Gait ataxia, Spinocerebellar atrophy, Ataxia, Cerebellar atrophy, Intention tremor, Spasticity OMIM:215470
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Rigidity, Hypertonia, Hemiballi... OMIM:618877
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Ataxia, Oculomotor apraxia, Dilated fourt... ORPHA:370022
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Positive Romberg sign, Vestibular areflexia, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614575
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Progressive cerebellar ataxia, Unsteady gait, Ce... ORPHA:98761
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramida... OMIM:607454
Chiari Malformation Type Ii
Spina bifida, Gray matter heterotopia, Ataxia, Opisthotonus, Arnold-Chiari malformation, Myelomen... OMIM:207950
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Tremor, Waddling gait, Dystonia OMIM:617557
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Failure to thrive, Spasticity OMIM:618426
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Distal sensory impairment, Babinski sign, Steppage gait, Spasticity OMIM:609260
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia, Dystonia OMIM:612126
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... OMIM:614487
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Babinski sign... OMIM:612674
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Eyelid myoclonus, Pontocerebellar atrophy, Cerebellar hypoplasia, Abnorma... OMIM:618060
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Abnormality of neuronal mi... ORPHA:945
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Ataxia, Cerebellar atrophy, Babinski sign, Progressive spastic paraplegia OMIM:612020
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:99014
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Chorea, Cerebellar hypoplasia, Opisthotonus, Cerebellar atrophy, Limb hypertonia, Babin... OMIM:612389
Cach Syndrome
Truncal ataxia, Limb ataxia, Growth delay, Spastic diplegia, Hemiparesis, Cerebellar atrophy, Dys... ORPHA:135
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Tremor-Ataxia-Central Hypomyelination Syndrome
Positive Romberg sign, Postural tremor, Dystonia, Clumsiness, Cerebellar hypoplasia, Ataxia, Dela... ORPHA:447896
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia 10
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... OMIM:603516
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... ORPHA:90117
Dystonia 11, Myoclonic
Writer's cramp, Tremor, Myoclonus, Torticollis OMIM:159900
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Increased urinary disaccharide excretion, Hyperactivity OMIM:248510
Spinocerebellar Ataxia 13
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... OMIM:605259
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spinocerebellar Ataxia Type 42
Gait ataxia, Head tremor, Impaired vibration sensation at ankles, Resting tremor, Spastic gait, U... ORPHA:458803
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... ORPHA:254886
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Tremor, Gait ataxia, Delayed puberty, Polymicrogyria, Cerebellar vermis atroph... OMIM:300354
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Polymicrogyria, Cerebellar atrophy, Limb hypertonia, Sim... OMIM:616212
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Oculomotor apraxia, Ata... ORPHA:313772
Joubert Syndrome
Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor apraxia, Ataxia, Abnormality o... ORPHA:475
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Cerebellar cortical ... ORPHA:247234
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebellar atrophy, Stereotypy, Stereotypical h... OMIM:618917
Familial Infantile Myoclonic Epilepsy
Clumsiness, Gait disturbance, Blepharospasm, Ataxia, Cerebellar atrophy, Periventricular nodular ... ORPHA:352582
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysdiadochokinesis, Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Short stature, Spast... OMIM:614381
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Spasticity, Ataxia, Bradykinesi... ORPHA:98760
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Cerebellar atrophy, Lower ... OMIM:604391
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Tremor, Short stature, Ataxia OMIM:278760
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Abnormality of neuronal migration ORPHA:1980
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Ataxia, Cerebellar atrophy,... OMIM:614153
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Upper limb postural tremor, Action tremor, Distal sensory impairment OMIM:180800
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Gait ataxia, Dystonia, Head tremor, Chorea, Progressive gait ataxia, Limb ataxia, Pontoce... OMIM:606002
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Rigidity OMIM:603472
Spinocerebellar Ataxia Type 13
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Cerebellar a... ORPHA:98768
Sotos Syndrome 3
Hyperactivity OMIM:617169
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Obesity, Lower limb spasticity, Parkinsonism, Short stature, Hyperactivit... ORPHA:3077
Gillespie Syndrome
Postural tremor, Slurred speech, Cerebellar hypoplasia, Ataxia OMIM:206700
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Abnormal cerebellum morphology, Cerebellar atrophy, Dysmetria, T... OMIM:618056
Parkinson Disease 14, Autosomal Recessive
Tremor, Dystonia, Clumsiness, Apraxia, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar d... ORPHA:457240
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Failure to thrive, Broad-based gait ORPHA:477673
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Soma... ORPHA:64753
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migr... ORPHA:65
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Acroparesthesia, Me... ORPHA:101030
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Dystonia, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngea... OMIM:606159
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Unsteady gait, Limb hypertonia, ... ORPHA:442835
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Gait ataxia, Lower limb spasticity, Cerebellar atrophy, Babinski sign ORPHA:139480
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Action tremor, Bradykinesia, Weakness due to upper mo... ORPHA:97355
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Aplasia/Hypoplasia of the cerebellum, Tremor, Gait disturbance, Hypertonia, Short stature ORPHA:1192
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Lethargy, Optic atrophy, Hyperactivity OMIM:274270
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, Cerebellar hypoplasia, Cerebel... OMIM:613153
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Gait disturbance, Growth delay, Abnormal pyramidal sign, Ataxia, Intr...