Gene Summary

Name:
rhomboid like 3
Synonyms:
Vrho,  Ventrhoid,  Rhbdl4

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
tremors Rhbdl3tm1b(EUCOMM)Wtsi HET Early adult 5.56×10-05
preweaning lethality, incomplete penetrance Rhbdl3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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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
Brain  Wholemount images heterozygote 75% (3 of 4)
Brainstem  Wholemount images heterozygote 50% (2 of 4)
Cerebellum  Wholemount images heterozygote 75% (3 of 4)
Cerebral cortex  Wholemount images heterozygote 75% (3 of 4)
Heart  Wholemount images heterozygote 100% (4 of 4)
Hippocampus  Wholemount images heterozygote 75% (3 of 4)
Hypothalamus  Wholemount images heterozygote 50% (2 of 4)
Lung  Wholemount images heterozygote 100% (4 of 4)
Lymph node  Wholemount images heterozygote 75% (3 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Oviduct  Wholemount images heterozygote Not available
Peripheral nervous system  Wholemount images heterozygote 100% (4 of 4)
Skin  Wholemount images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 100% (4 of 4)
Striatum  Wholemount images heterozygote 50% (2 of 4)
Testis  Wholemount images heterozygote 50% (2 of 4)
Thymus  Wholemount images heterozygote 100% (4 of 4)
Uterus  Wholemount images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Kidney 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)
Lower urinary tract 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)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland 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)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote 25% (1 of 4)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 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 0.53% (3 of 571)
aorta 0.18% (1 of 564)
bone 0.0%
brain 0.71% (4 of 562)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 562)
cerebellum 0.53% (3 of 571)
cerebral cortex 0.35% (2 of 570)
esophagus 1.79% (7 of 391)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 570)
hippocampus 0.52% (3 of 573)
hypothalamus 0.35% (2 of 568)
kidney 3.55% (20 of 563)
large intestine 1.59% (9 of 566)
liver 0.0%
lower urinary tract 0.17% (1 of 576)
lung 0.18% (1 of 563)
lymph node 0.18% (1 of 568)
mammary gland 0.0%
olfactory lobe 0.35% (2 of 570)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.88% (5 of 568)
parathyroid gland 0.19% (1 of 538)
peripheral nervous system 0.35% (2 of 566)
peyers patch 0.0%
pituitary gland 0.18% (1 of 563)
prostate gland 2.1% (12 of 572)
skeletal muscle 0.0%
skin 0.18% (1 of 570)
small intestine 1.59% (9 of 567)
spinal cord 0.35% (2 of 569)
spleen 0.53% (3 of 564)
stomach 2.13% (12 of 564)
striatum 0.35% (2 of 571)
testis 1.07% (6 of 563)
thymus 0.17% (1 of 573)
thyroid gland 2.99% (17 of 568)
trachea 0.52% (3 of 572)
uterus 0.0%
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)
brain 0.88% (4 of 453)
ear 0.22% (1 of 455)
embryo 0.22% (1 of 448)
eye 0.22% (1 of 449)
footplate 0.22% (1 of 450)
forebrain 0.22% (1 of 461)
forelimb 0.22% (1 of 453)
handplate 0.22% (1 of 457)
head 1.11% (5 of 450)
heart 0.0%
hindbrain 1.32% (6 of 455)
hindlimb 0.22% (1 of 458)
liver 0.22% (1 of 457)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 446)
maxillary process 0.23% (1 of 444)
midbrain 0.22% (1 of 449)
oral cavity 0.22% (1 of 454)
skin 0.22% (1 of 452)
tail 0.22% (1 of 462)
tail somite group 0.22% (1 of 456)

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

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Echo

M-Mode Images

68 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

12 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

9 Images

Human diseases caused by Rhbdl3 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 Rhbdl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Glutathionuria
Tremor OMIM:231950
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:85292
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... OMIM:614561
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Chorea, Benign Familial
Chorea OMIM:215450
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Progressive spastic paraplegia, Lower limb spasticity ORPHA:401835
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Truncal ataxia, Tremor OMIM:616127
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:600116
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... ORPHA:98762
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:607317
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:613728
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... OMIM:128230
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism ORPHA:210571
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Dystonia 24
Torticollis, Head tremor, Blepharospasm OMIM:615034
Spinocerebellar Ataxia 19
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... OMIM:607346
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia OMIM:600363
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Spinocerebellar Ataxia 40
Dysmetria, Dysdiadochokinesis, Spastic paraparesis, Intention tremor OMIM:616053
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign OMIM:615924
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Behr Syndrome
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm ORPHA:420485
Spinocerebellar Ataxia 12
Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremor, Parkins... OMIM:604326
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Tremor OMIM:224500
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Action tremor ORPHA:464440
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal ataxia OMIM:130950
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Corticobasal Syndrome
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... ORPHA:454887
Hypermanganesemia With Dystonia 2
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism OMIM:617013
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Urocanic Aciduria
Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:616719
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism ORPHA:521406
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia OMIM:619028
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:619279
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodegeneration With Brain Iron Accumulation 5
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinsonism, Spast... OMIM:300894
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis OMIM:612126
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Primary Dystonia, Dyt2 Type
Involuntary movements, Blepharospasm, Torticollis, Tremor ORPHA:99657
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Huntington Disease-Like 2
Chorea, Action tremor, Bradykinesia, Rigidity OMIM:606438
Spinocerebellar Ataxia 48
Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia OMIM:618093
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetria, Tremor, Dysdiadochokines... OMIM:213600
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Rigidity, Tremor OMIM:618090
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Hyperphenylalaninemia, Bh4-Deficient, A
Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism OMIM:261640
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Gait ataxia, Tremor OMIM:618387
Familial Dyskinesia And Facial Myokymia
Chorea, Resting tremor, Myoclonus, Limb hypertonia ORPHA:324588
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Spasticity OMIM:612716
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Abnormal pyramidal sign, Incoordination, Ataxia OMIM:614947
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal pyramidal sign, Limb ataxia, ... OMIM:617145
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ga... ORPHA:98773
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations OMIM:159950
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Leukodystrophy, Hypomyelinating, 6
Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia ORPHA:101075
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia, Truncal ... OMIM:618877
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Fasciculations, Tongue fasciculations ORPHA:276435
Cystathioninuria
Tremor ORPHA:212
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordination, Aprax... OMIM:615157
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Blepharospasm, Tremor OMIM:607671
Spinocerebellar Ataxia 8
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign OMIM:608768
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Myoclonus, Progressive cerebellar ataxia ORPHA:139485
Parkinson Disease 8, Autosomal Dominant
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607060
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign OMIM:617435
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Resting tremor, Limb hypertonia OMIM:606703
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Stereotypy OMIM:619470
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Ataxia, Titubation, Tremor OMIM:619405
Beta-Propeller Protein-Associated Neurodegeneration
Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Myopathy, Spheroid Body
Tremor OMIM:182920
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Rigidity, Choreoathetosis, Chorea, Bradykinesia, Tremor, Ataxia, Spasticity, Parki... OMIM:606159
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Bradykinesia, Extrapyramidal muscular rigidity... ORPHA:99750
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity ORPHA:240085
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Spasticity OMIM:300983
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine motor coord... ORPHA:79263
Hsd10 Disease
Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis ORPHA:391417
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia ORPHA:101078
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Bradykinesia, Parkinsonism with favorable respons... ORPHA:53351
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Hypertonia, Spasticity OMIM:609260
Spinocerebellar Ataxia 42
Babinski sign, Spastic gait, Spastic ataxia, Tremor, Ataxia, Abnormal pyramidal sign OMIM:616795
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Bradykinesia, Hemiparesis ORPHA:306669
Dystonia 7, Torsion
Clumsiness, Hand tremor, Blepharospasm, Torticollis OMIM:602124
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Oculomotor apraxia... OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia OMIM:614831
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity, Gait ataxia ORPHA:1170
Atypical Juvenile Parkinsonism
Involuntary movements, Rigidity, Myoclonus, Bradykinesia, Resting tremor, Abnormal pyramidal sign... ORPHA:391411
Kufor-Rakeb Syndrome
Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Tremor, Parkinsonism ... OMIM:606693
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic paraplegia OMIM:616586
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus ORPHA:2590
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Tongue thrusting, Tremor, Stereotypical hand wringing, Apr... ORPHA:3095
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements OMIM:233910
Developmental And Epileptic Encephalopathy 42
Athetosis, Ataxia, Hypertonia, Tremor OMIM:617106
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Tremor, Spasticity, Apraxia, Gait ataxia OMIM:617810
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Paraparesis ORPHA:99014
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Myoclonus, Progressive cerebellar... ORPHA:101
Spinocerebellar Ataxia Type 27
Hand tremor, Tremor, Truncal ataxia, Limb ataxia, Gait ataxia ORPHA:98764
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Choreoa... ORPHA:99
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Choreoathetosis, Spastic gait, Bradykinesia, Spastic tetraplegia, Tremor, Ataxia, ... OMIM:300055
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Myoclonus, Blepharospasm OMIM:607876
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Fasciculations OMIM:313200
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Hypermanganesemia With Dystonia 1
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Poor fine motor coo... OMIM:613280
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Incoordination OMIM:302800
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Ataxia With Vitamin E Deficiency
Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnormal pyramidal sign, Hemiplegia/he... ORPHA:96
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:208920
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor OMIM:615578
Peroxisome Biogenesis Disorder 5B
Dysmetria, Oculomotor apraxia, Ataxia, Tremor OMIM:614867
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Babinski sign, Spastic paraplegia ORPHA:477673
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Incoordination, Abnormal pyramidal sign OMIM:618060
4H Leukodystrophy
Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Tremor, Ataxia,... ORPHA:289494
Parkinson Disease 20, Early-Onset
Rigidity, Eyelid apraxia, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Neuronal Intranuclear Inclusion Disease
Tremor, Ataxia, Rigidity OMIM:603472
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... ORPHA:363400
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Spastic ataxia, Tremor, Progressive cerebellar... ORPHA:137898
Waisman Syndrome
Resting tremor, Parkinsonism, Cogwheel rigidity, Bradykinesia OMIM:311510
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor ORPHA:70594
Saccharopinuria
Tremor, Spastic diplegia, Gait ataxia ORPHA:3124
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Spasticity, Stereotypy OMIM:618718
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Truncal... ORPHA:228360
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:616505
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Parkinsonism, Resting tremor, Lower limb spasticity ORPHA:3077
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Gait ataxia ORPHA:529665
Pelizaeus-Merzbacher Disease
Head titubation, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia, Abnormal pyra... OMIM:312080
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Sneddon Syndrome
Tremor, Hemiplegia OMIM:182410
Parkinsonism-Dystonia 2, Infantile-Onset
Tremor, Parkinsonism, Gait ataxia, Incoordination OMIM:618049
Amish Nemaline Myopathy
Tremor ORPHA:98902
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Blepharospasm, Tremor OMIM:128100
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Frequent falls, Lower limb spasticity, Tremor, Tetraplegia, Spastic diplegia, Slurred... ORPHA:206443
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Spontaneous Periodic Hypothermia
Tremor, Ataxia ORPHA:29822
Brain Dopamine-Serotonin Vesicular Transport Disease
Tremor, Abnormality of coordination, Hypertonia, Dysdiadochokinesis, Spastic tetraparesis, Ataxia... ORPHA:352649
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity OMIM:304700
Pyruvate Dehydrogenase Deficiency
Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal pyramidal sign ORPHA:765
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Abnormality of coordination,... ORPHA:442835
Parkinson Disease, Late-Onset
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:168600
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia OMIM:618056
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medicati... ORPHA:240071
Nemaline Myopathy 5
Tremor OMIM:605355
Adult-Onset Autosomal Dominant Leukodystrophy
Babinski sign, Clonus, Head titubation, Dysmetria, Spastic gait, Intention tremor, Tremor, Ataxia... ORPHA:99027
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic tetraplegia, Spastic paraplegia OMIM:612164
Classic Phenylketonuria
Paraplegia, Tremor, Hypertonia, Hemiplegia ORPHA:79254
Amyloidosis, Hereditary, Transthyretin-Related
Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity OMIM:105210
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia ORPHA:83629
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Fasciculations, Vocal cord paresis OMIM:619574
Aceruloplasminemia
Involuntary movements, Rigidity, Torticollis, Chorea, Tremor, Ataxia, Parkinsonism, Limb ataxia, ... ORPHA:48818
Tetanus
Opisthotonus, Rigidity, Spasticity of pharyngeal muscles, Tremor, Hypertonia ORPHA:3299
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Progressive extrapyramidal movement disorder, Rigidity, Eyelid apraxia, Myoclonus, Br... ORPHA:199351
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Chorea, Progressive gait ataxia, Tremor, Oculomotor apraxia, Head tremor, Abnormal pyramidal sign... OMIM:606002
Perry Syndrome
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168605
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Parkinsonism, Hypertonia, Tremor ORPHA:1578
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Bradykinesia, Tremor, Ataxia, Parkinsonism OMIM:146500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Ataxia, Tetraparesis OMIM:617186
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Parkinso... OMIM:614298
Progressive Supranuclear Palsy
Tremor, Blepharospasm, Bradykinesia, Rigidity ORPHA:683
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia ORPHA:713
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Frequent falls, Dysmetria, Myoclonus, Exaggerated startle res... ORPHA:845
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Rigidity, Choreoathetosis, Eyelid apraxia, Abnormality of extrapyramidal motor func... OMIM:234200
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Spastic gait, Spastic dysarthria, Tremor, Abnormal pyramidal sign, Lower limb hype... ORPHA:447753
Serotonin Syndrome
Clonus, Rigidity, Myoclonus, Tremor, Hypertonia ORPHA:43116
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Poor motor coordination, Rigidity, Chorea, Tremor, Ataxia ORPHA:25
Alternating Hemiplegia Of Childhood
Rigidity, Choreoathetosis, Paroxysmal dyskinesia, Chorea, Tremor, Oculomotor apraxia, Ataxia, Tet... ORPHA:2131
Supranuclear Palsy, Progressive, 1
Rigidity, Eyelid apraxia, Bradykinesia, Retrocollis, Tremor, Parkinsonism 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 Rhbdl3

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 Rhbdl3.

No publications found that use IMPC mice or data for Rhbdl3.

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MGI Allele Allele Type Produced
Rhbdl3tm47173(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rhbdl3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Rhbdl3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rhbdl3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rhbdl3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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