Gene Summary

Name:
YJU2 splicing factor
Synonyms:
2900016D05Rik,  Ccdc94

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
abnormal retina morphology Yju2tm1b(KOMP)Wtsi HET   Early adult 1.32×10-05
preweaning lethality, complete penetrance Yju2tm1b(KOMP)Wtsi HOM   Early adult 0.00
tremors Yju2tm1b(KOMP)Wtsi HET   Early adult 4.56×10-05
embryonic lethality prior to organogenesis Yju2tm1b(KOMP)Wtsi HOM   E9.5 0.00

Download data as:  TSV  XLS

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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  Wholemount images heterozygote 100% (4 of 4)
Aorta  Wholemount images heterozygote 100% (4 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brainstem  Wholemount images heterozygote 100% (4 of 4)
Cartilage tissue  Wholemount images heterozygote 50% (2 of 4)
Cerebellum  Wholemount images heterozygote 100% (4 of 4)
Cerebral cortex  Wholemount images heterozygote 100% (4 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 100% (4 of 4)
Hypothalamus  Wholemount images heterozygote 100% (4 of 4)
Kidney  Wholemount images heterozygote 100% (4 of 4)
Lower urinary tract  Wholemount images heterozygote 0.0% (0 of 4)
Olfactory lobe  Wholemount images heterozygote 100% (4 of 4)
Oviduct  Wholemount images heterozygote 50% (2 of 4)
Parathyroid gland  Wholemount images heterozygote 100% (4 of 4)
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Pituitary gland  Wholemount images heterozygote 100% (4 of 4)
Prostate gland  Wholemount images heterozygote 50% (2 of 4)
Skin  Wholemount images heterozygote 25% (1 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 100% (4 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 100% (4 of 4)
Trachea  Wholemount images heterozygote 100% (4 of 4)
Trigeminal V nerve  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Vas deferens  Wholemount images heterozygote 50% (2 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cecum N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Oral epithelium N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 100% (2 of 2)
Mesonephros of male N/A heterozygote 100% (2 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 511)
heart ventricle 1.67% (1 of 60)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 511)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 506)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

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

9 Images

Eye Morphology

VIP of left eye

13 Images

Eye Morphology

VIP of right eye

13 Images

Adult LacZ

LacZ Images Wholemount

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Forepaw

9 Images

Eye Morphology

VIP of left fundus

13 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

VIP of right fundus

13 Images

Human diseases caused by Yju2 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 Yju2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Optic Atrophy 2
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis OMIM:311050
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:619491
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements OMIM:611092
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Cerebellar Ataxia, Cayman Type
Abnormal retinal morphology, Nonprogressive cerebellar ataxia, Gait ataxia, Intention tremor, Tru... ORPHA:94122
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... OMIM:614561
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Spinocerebellar Ataxia 40
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... OMIM:616053
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Babinski sign, Ataxia, Tremor OMIM:611105
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus OMIM:616921
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Pigmentary retinopathy, Macular degeneration, Abnormal... OMIM:164500
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Dystonia 24
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia OMIM:615034
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Leukoencephalopathy With Ataxia
Limb ataxia, Optic neuropathy, Retinoschisis, Gait ataxia, Action tremor, Chorioretinal atrophy, ... OMIM:615651
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Dystonia 23
Limb dystonia, Torticollis, Axial dystonia, Writer's cramp, Head tremor, Myoclonus OMIM:614860
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... ORPHA:216873
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Sandhoff Disease, Adult Form
Spasticity, Focal dystonia, Tremor, Gait ataxia, Fasciculations, Dystonia ORPHA:309169
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Hemiballismus, Tremor, Chorea ORPHA:494526
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Oculorenocerebellar Syndrome
Spastic diplegia, Choreoathetosis, Retinal degeneration OMIM:257970
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Torticollis, Postural tremor, Bradykinesia ORPHA:210571
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Intention tremo... ORPHA:314978
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... ORPHA:179
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Dystonia 7, Torsion
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... OMIM:602124
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... ORPHA:98762
Corticobasal Syndrome
Limb myoclonus, Limb dystonia, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... ORPHA:454887
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus, Writer's cramp OMIM:159900
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Torsion dystonia, Blepharospasm OMIM:224500
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Neuroectodermal Melanolysosomal Disease
Spasticity, Aplasia/Hypoplasia of the macula, Ataxia, Rigidity, Tremor, Macular dystrophy, Abnorm... ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia OMIM:615924
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Hemiparesis, Ataxia OMIM:141500
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... OMIM:617284
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Spinocerebellar Ataxia 12
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... OMIM:604326
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Oromandibular dystoni... ORPHA:521406
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia OMIM:605909
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia ORPHA:363710
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... OMIM:213600
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity OMIM:600363
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus ORPHA:98763
Urocanase Deficiency
Ataxia, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria OMIM:276880
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Hemiparesis, Ataxia, Pigmentary retinopathy, Tremor, Intention tremor, Rod-cone dystr... OMIM:614307
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Dystonia, Spastic dysarthria, Spastic ataxia, Tremor, Spastic paraplegia, Spastic ga... ORPHA:251282
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Dystonia 12
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia OMIM:128235
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Parkinson Disease 21
Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:616361
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 50
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor OMIM:620158
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Nonprogressive cerebellar ataxia, Clonus, Dysdiadochokinesis, Intention tremor, Babinski sign, Dy... OMIM:301310
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Chorea, Resting tremor, Myoclonus, Dystonia ORPHA:324588
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Dystonia, Tremor OMIM:619651
Spinocerebellar Ataxia 23
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Dysmetria OMIM:610245
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Retrocollis, Postural tremor, Generalized d... OMIM:612067
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Optic atrophy, Dystonia, Spastic paraparesis ORPHA:329284
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Chorea, Myoclonus, Resting tremor, Involuntary movements, Choreoathetosis, Dysto... OMIM:606703
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Bradykinesia, Resting tremor, Babinski... ORPHA:363654
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria OMIM:618093
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614251
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Vestibular areflexia, Dysdiadochokinesis, Gait ataxia, Intention t... ORPHA:504476
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
X-Linked Dystonia-Parkinsonism
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... ORPHA:53351
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... ORPHA:397946
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... OMIM:606159
Spinocerebellar Ataxia 15
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Optic atrophy, Ataxia, Tremor OMIM:300983
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... OMIM:617145
Leber Optic Atrophy
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Postural tremor, Leber opti... OMIM:535000
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:617836
Leukodystrophy, Hypomyelinating, 6
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Optic atrophy, Choreoathetosis, Dystonia OMIM:612438
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria OMIM:619028
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Pigmentary retinopathy, Rigidity, Laryngeal dystonia, Fasciculatio... ORPHA:99
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Urocanic Aciduria
Gait ataxia, Action tremor, Truncal ataxia, Ataxia ORPHA:210128
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... OMIM:612736
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
Hsd10 Disease
Ataxia, Rigidity, Tremor, Myoclonus, Optic atrophy, Choreoathetosis, Spastic paraparesis ORPHA:391417
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Apraxia, Tremor, Gait ataxia, Optic atrophy, Dysmetria OMIM:617810
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria OMIM:213200
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Abnormality of retin... ORPHA:96
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Optic atrophy, Ataxia ORPHA:99014
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia OMIM:619738
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Optic atrophy, Tremor OMIM:619470
Peroxisome Biogenesis Disorder 5B
Retinal dystrophy, Oculomotor apraxia, Ataxia, Tremor, Rod-cone dystrophy, Dysmetria OMIM:614867
Parkinsonism-Dystonia 2, Infantile-Onset
Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Incoordination, Dystonia OMIM:618049
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Tremor OMIM:616494
Behr Syndrome
Frequent falls, Progressive spasticity, Ataxia, Tremor, Babinski sign, Optic atrophy, Hypoplastic... OMIM:210000
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Myoclonus, Dystonia ORPHA:139485
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Bradykinesia, Dystonia ORPHA:306669
Neurodegeneration With Brain Iron Accumulation 7
Dystonia, Ataxia, Tremor, Lower limb spasticity, Dysmetria OMIM:617916
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Optic neuropathy, Dysdiadochok... ORPHA:101
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, Ataxia OMIM:617831
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... OMIM:618877
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Parkinsonism, Clumsiness, Postural tremor, Rigidity, Bradykinesia, Resting tremor, Dystonia OMIM:619911
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Focal d... ORPHA:99750
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... ORPHA:79263
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Truncal ataxia, Dysmetria OMIM:610185
Spinocerebellar Ataxia 2
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... OMIM:183090
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradykinesia, ... ORPHA:240085
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia, Hypertonia, Choreoathetosi... OMIM:261640
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Gait apraxia,... OMIM:615157
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Epilepsy, Progressive Myoclonic, 6
Tremor, Myoclonus, Ataxia OMIM:614018
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Cerebral palsy, Dystonia ORPHA:70594
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Rigidity, Tremor, Choreoathetosis, Dystonia OMIM:233910
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... OMIM:606693
Parkinson Disease 14, Autosomal Recessive
Spasticity, Parkinsonism, Eyelid myoclonus, Hemiparesis, Hand tremor, Axial dystonia, Clumsiness,... OMIM:612953
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Ga... ORPHA:98773
4H Leukodystrophy
Ataxia, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Dysdiadochokinesis... ORPHA:289494
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dystonia, Dysmetria OMIM:607694
Glutathionuria
Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysmetria OMIM:614831
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Incoordination OMIM:608768
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Frequent falls, Limb ataxia, Tremor, Gait ataxia OMIM:616719
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Ataxia, Spastic ataxia, Tremor, Spastic gait, Babinski sign OMIM:616795
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Ataxia, Athetosis OMIM:617106
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Ankle clonus, Tremor, Bradykinesia, Hypertonia, Dystonia OMIM:617435
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Ataxia, Cogwheel rigidity, Chorea, Bradykinesia, Intention tremor, Myoclonus, Resti... OMIM:619725
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Gait ataxia, Poor motor coordination, Dysmetria ORPHA:1170
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Ataxia, Limb hypertonia, Rigidity, Retinal degeneration, Tremor, Abnormality of coord... ORPHA:442835
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Generalized dystonia, Scissor ... OMIM:617013
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Abnormality o... ORPHA:352649
Cystathioninuria
Tremor ORPHA:212
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Oromandibular dystonia,... OMIM:128100
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykin... OMIM:607060
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Rigidity, Tremor OMIM:176500
Aceruloplasminemia
Parkinsonism, Limb ataxia, Torticollis, Ataxia, Blepharospasm, Macular degeneration, Rigidity, Ab... ORPHA:48818
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Progressive cerebellar ataxia, Clumsiness, Spastic ataxia, Tremor, Slurre... ORPHA:137898
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Tremor, Bradykinesia, Spastic paraplegia, Res... OMIM:300055
Hypermanganesemia With Dystonia 1
Parkinsonism, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Bradykinesia, Poor ... OMIM:613280
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Ataxia, Dysmetria OMIM:619405
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Gait ataxia, Intention tremor, Myoclonus, Babinski sign, Optic atrophy, Hypertoni... OMIM:616505
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Parkinsonism, Abnormal vestibulo-ocular reflex, Ataxia, Macular degeneration, Rigidit... ORPHA:247234
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Spastic tetraplegia, Ataxia, Limb hypertonia, Athetosis, Tremor, Optic atrophy, Hypertonia, Rod-c... OMIM:617710
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention t... OMIM:614381
Gerstmann-Straussler Disease
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoc... OMIM:137440
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Spasticity, Oculomotor apraxia, Tremor, Gait ataxia, Optic atrophy, Dysmetria ORPHA:529665
Spinocerebellar Ataxia Type 27
Limb ataxia, Hand tremor, Tremor, Gait ataxia, Truncal ataxia ORPHA:98764
Mohr-Tranebjaerg Syndrome
Abnormal pyramidal sign, Ankle clonus, Apraxia, Generalized dystonia, Focal dystonia, Tremor, Oro... ORPHA:52368
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Ataxia, Generalized dystonia, Head titubation, Writer's cramp, Tremor, I... OMIM:312080
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Ataxia, Chorea, Tremor, Gait ataxia, Truncal ataxia, Dystonia OMIM:208920
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Myoclonus, Ataxia, Blepharospasm OMIM:607876
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Tremor, Incoordination OMIM:618060
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis OMIM:300894
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Axial dystonia, Parkinsonism with favorable... ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Generalized dystonia, Abnormality of e... OMIM:614298
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Abnormal optic nerve morphology, Spastic paraplegia, Babinski sign ORPHA:83629
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spasticity, Ataxia, Optic disc pallor, Tremor, Spastic paraplegia, Babinski sign, Dysmetria OMIM:618527
Parkinson Disease, Late-Onset
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor, Dystonia OMIM:168600
Migraine, Familial Hemiplegic, 2
Hemiparesis, Apraxia, Hemiplegia, Tremor, Gait ataxia, Episodic ataxia, Dysmetria OMIM:602481
Spastic Paraplegia 9B, Autosomal Recessive
Spasticity, Pseudobulbar paralysis, Tremor, Tetraplegia, Spastic paraplegia, Babinski sign OMIM:616586
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia, Retinal dystrophy ORPHA:713
Adult-Onset Dystonia-Parkinsonism
Spasticity, Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Rigidity... ORPHA:199351
Parkinson Disease 20, Early-Onset
Parkinsonism, Rigidity, Tremor, Bradykinesia, Eyelid apraxia, Involuntary movements, Dystonia OMIM:615530
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Oculomotor apraxia, Blepharospasm, Spastic dysarthria, Rigidity, Tremor, Bradykinesia ORPHA:240094
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Blepharospasm, Pigmentary retinopathy,... OMIM:234200
Tay-Sachs Disease
Frequent falls, Progressive spasticity, Clumsiness, Ankle clonus, Decerebrate rigidity, Cherry re... ORPHA:845
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Ataxia, Poor motor coordination, Rigidity, Chorea, Tremor, Athetosis, Dystonia, Re... ORPHA:25
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Limb hypertonia, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Hypertoni... OMIM:618056
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Spastic gait, Ataxia, Clonus, Upper limb postu... ORPHA:99027
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Progressive gait ataxia, Chorea, Tremor... OMIM:606002
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Parkinsonism, Oculogyric crisis, Tremor, Cerebral palsy, Hypertonia ORPHA:1578
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Ataxia, Rigidity, Tremor, Bradykinesia, Babinski sign OMIM:146500
Supranuclear Palsy, Progressive, 1
Limb dystonia, Parkinsonism, Retrocollis, Axial dystonia, Rigidity, Tremor, Bradykinesia, Eyelid ... OMIM:601104

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Yju2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Yju2.

No publications found that use IMPC mice or data for Yju2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Yju2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Yju2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Yju2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Yju2tm177504(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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