Gene Summary

Name:
nuclear receptor binding SET domain protein 3
Synonyms:
Whsc1l1,  WHISTLE

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
small spleen Nsd3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased total body fat amount Nsd3tm1b(EUCOMM)Hmgu HET   Early adult 1.06×10-05
increased startle reflex Nsd3tm1b(EUCOMM)Hmgu HOM Early adult 2.06×10-08
trunk curl Nsd3tm1b(EUCOMM)Hmgu HET Early adult 6.04×10-09
tremors Nsd3tm1b(EUCOMM)Hmgu HET Early adult 2.71×10-06
decreased exploration in new environment Nsd3tm1b(EUCOMM)Hmgu HOM   Early adult 9.05×10-05
increased circulating alkaline phosphatase level Nsd3tm1b(EUCOMM)Hmgu HOM Early adult 3.40×10-17
abnormal snout morphology Nsd3tm1b(EUCOMM)Hmgu HOM   Early adult 2.73×10-05
preweaning lethality, incomplete penetrance Nsd3tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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 100% (2 of 2)
Ear N/A homozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 50% (1 of 2)
Eye N/A homozygote 50% (1 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

Echo

M-Mode Images

52 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Nsd3 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 Nsd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Arm dystonia, Writer's c... OMIM:619565
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Glutathionuria
Tremor OMIM:231950
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign ORPHA:401840
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Ataxia, Spasticity, Babinski sign, Tremor OMIM:611105
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Torticollis, Writer's cramp, Abnormal posturing, Tremor OMIM:128100
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Torticollis, Writer's cramp, Myoclonus OMIM:614860
Behr Syndrome
Achilles tendon contracture, Dysmetria, Ataxia, Progressive spasticity, Hamstring contractures, B... OMIM:210000
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Multiple joint contractures, Oromandibular dystonia, Bradyk... ORPHA:521406
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Torticollis, Postural tremor ORPHA:210571
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Tremor OMIM:616710
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Mohr-Tranebjaerg Syndrome
Spasticity, Dystonia, Abnormal posturing, Tremor OMIM:304700
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor OMIM:615768
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Nonprogressive cerebellar at... ORPHA:314978
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... OMIM:270500
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
Spinocerebellar Ataxia 12
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar ataxi... OMIM:604326
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor OMIM:600363
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Gait ataxia, Hemiplegia, Chorea, Progressiv... ORPHA:225147
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor OMIM:128235
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Tremor OMIM:615010
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Increased intramuscular fat, Tremor ORPHA:276435
Glut1 Deficiency Syndrome 2
Ataxia, Dystonia, Choreoathetosis, Tremor OMIM:612126
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Rigidity, Hypertonia OMIM:261640
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign, Tremor OMIM:618093
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea OMIM:606438
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Tremor OMIM:616668
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Epilepsy, Progressive Myoclonic, 6
Ataxia, Myoclonus, Tremor OMIM:614018
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Bra... ORPHA:53351
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Gait ataxia, Ri... OMIM:618877
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:616719
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor OMIM:619028
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Myoclonus ORPHA:324588
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Reduced intraabdominal adipose tissue, Generalized lipodys... ORPHA:363400
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus OMIM:617435
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Titubation, Ataxia, Tremor OMIM:619405
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Tremor OMIM:614947
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Dystonia, Resting tremor, Limb hypertonia OMIM:606703
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia ORPHA:210128
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Tremor, Spasticity, Babinski sign, Hypertonia OMIM:609260
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Dysdiado... OMIM:615157
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Ataxia, Chorea, Hyperkinetic movements, Tremor OMIM:619738
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Dysmetria, Tremor OMIM:618090
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240085
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:614251
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Dysmetria, Ataxia, Tremor OMIM:618387
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Tremor ORPHA:329284
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Spasticity, Chorea, Clumsiness, Poor fine motor co... ORPHA:79263
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Tremor ORPHA:306669
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Myoclonus, Tremor OMIM:616494
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Hypertonia ORPHA:33445
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... OMIM:300055
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Tongue fasciculations, Myoclonus, Tremor OMIM:159950
Hypermanganesemia With Dystonia 2
Achilles tendon contracture, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Oromandi... OMIM:617013
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular rigidity, Blepharo... ORPHA:99750
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Generalized dystonia, Spasticity, Abnormal posturing ORPHA:216866
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Elbow flexion contracture, Tremor OMIM:619470
Developmental And Epileptic Encephalopathy 42
Flexion contracture, Athetosis, Ataxia, Tremor, Hypertonia OMIM:617106
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Ataxia, Tremor OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Ataxia, Tremor OMIM:617831
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Gait ... ORPHA:3095
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Cra... OMIM:607483
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Dystonia, Resting tremor, Involuntary movements, Bradykinesia, Slowed sl... ORPHA:391411
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor OMIM:233910
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Paraparesis, Rigidi... OMIM:606693
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor ORPHA:101075
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Ataxia, Gait ataxia, Dysdiadochokinesis, Tremor OMIM:614831
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Myoclonus, Tremor ORPHA:391417
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Oculogyric crisis, Gait ataxia, Tremor OMIM:618049
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:98773
Amish Nemaline Myopathy
Shoulder flexion contracture, Hip contracture, Tremor ORPHA:98902
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Limb myoclonus, Clumsiness, Myoclonus, Tremor ORPHA:2590
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral palsy, Rigidity, Tremor ORPHA:70594
Sandifer Syndrome
Torticollis, Abnormal posturing, Hiatus hernia ORPHA:71272
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor OMIM:608768
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Babinski sign, Spastic ataxia, Tremor OMIM:616795
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Tremor ORPHA:101078
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Involuntary movements, Ataxia, Progress... ORPHA:101
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor ORPHA:1170
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Leg dystonia, Poor coordination,... ORPHA:255
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Achilles tendon contracture, Frequent falls, Dysmetria, Hand tremor, Paraparesis,... OMIM:302800
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Ataxia, Limb dystoni... ORPHA:352649
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Apraxia, Gait ataxia, Spasticity, Tremor OMIM:617810
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysmetria, Dysdiadochokinesis, Tremor OMIM:610185
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Ataxia, Dysdiadochokinesis, Hemiplegia/... ORPHA:96
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Cystathioninuria
Tremor ORPHA:212
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal ataxia, Limb ataxia, ... OMIM:208920
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Poor fine motor coordination... OMIM:613280
4H Leukodystrophy
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... ORPHA:289494
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Ataxia, Cerebral palsy, Spa... ORPHA:765
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tetraplegia, Spasticity, Babinski sign, Tremor OMIM:616586
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Tremor ORPHA:99014
Perry Syndrome
Abnormality of extrapyramidal motor function, Parkinsonism, Tremor ORPHA:178509
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Dystonia, Anxiety, Exaggerated startle response, Abnormal fear/anxiety-rela... ORPHA:309246
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Flexion contracture, Progressive cerebellar ataxia, Upper motor neuron dysfunction, P... ORPHA:137898
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Progressive cerebellar ataxia, Gait at... ORPHA:282166
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Wide nasal bridge ORPHA:89844
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Spast... OMIM:312080
Spinocerebellar Ataxia Type 27
Hand tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Tremor ORPHA:98764
Tay-Sachs Disease
Apathy, Dementia, Exaggerated startle response, Psychomotor deterioration OMIM:272800
Gerstmann-Straussler Disease
Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, Spasticity, Limb atax... OMIM:137440
Nemaline Myopathy 5
Shoulder flexion contracture, Hip contracture, Tremor OMIM:605355
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Parkinsonism with favorable response to dop... OMIM:607060
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Flexion contracture, Intention tremor, Ataxia, Gait ataxia, Babinski sign,... OMIM:616505
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Abnormal posturing OMIM:614857
Sneddon Syndrome
Chorea, Hemiparesis, Tremor ORPHA:820
Xeroderma Pigmentosum, Complementation Group F
Flexion contracture, Ataxia, Tremor OMIM:278760
Stiff Person Spectrum Disorder
Emotional lability, Anxiety, Exaggerated startle response, Agoraphobia ORPHA:3198
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Ataxia, Gait ataxia, Myoclonus, Hypertonia OMIM:619092
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Rigidity, Spasticity, Tremor, Hypertonia OMIM:176500
Parkinson Disease 20, Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Eyelid apraxia, Tremor OMIM:615530
Sialidosis Type 2
Flexion contracture, Ataxia, Inguinal hernia, Umbilical hernia, Tremor ORPHA:87876
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Ataxia, Oculomotor apraxia, Tremor OMIM:618060
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor OMIM:313200
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Dysmetria, Ataxia, Tremor OMIM:614867
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Tremor, Gait ataxia, Truncal titubation, Hypertonia OMIM:618056
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Ataxia, Myoclonus, Tremor OMIM:607876
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Axial dystonia, Blepharospasm, Bradykinesia, Slo... ORPHA:240071
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Spastic paraplegia, Tremor ORPHA:477673
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal pyramidal sign, Dysmetria, Dystonia, Intention tremor, Ataxia, Gait ataxia, Spasticity, ... OMIM:614381
Cln5 Disease
Dysmetria, Poor gross motor coordination, Ataxia, Spasticity, Dysdiadochokinesis, Abnormal centra... ORPHA:228360
Ddost-Cdg
Lipodystrophy, Oromotor apraxia, Tremor ORPHA:300536
Mohr-Tranebjaerg Syndrome
Abnormal pyramidal sign, Dystonia, Focal dystonia, Generalized dystonia, Apraxia, Oromandibular d... ORPHA:52368
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor OMIM:615578
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Lower limb spasticity, Resting tremor, Tremor ORPHA:3077
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Spastic diplegia, Spastic paraparesis, Lower limb spasticity, Ataxia, Upper motor... ORPHA:206443
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Gait ataxia, Spasticity, Oculomotor apraxia, Tremor ORPHA:529665
Saccharopinuria
Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Adult-Onset Autosomal Dominant Leukodystrophy
Tetraparesis, Abnormal pyramidal sign, Dysmetria, Action tremor, Dysdiadochokinesis, Spastic gait... ORPHA:99027
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Bradykinesia, Ataxia, Poor fine motor coordination, Tremor ORPHA:36387
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Parkinson Disease, Late-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:168600
Parkinson Disease 23, Autosomal Recessive Early-Onset
Abnormal pyramidal sign, Parkinsonism, Resting tremor, Limb dystonia, Rigidity, Spasticity OMIM:616840
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm2-Gangliosidosis, Ab Variant
Apathy, Dementia, Dystonia, Exaggerated startle response OMIM:272750
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Emotional lability, Irritability, Lim... OMIM:608643
Stiff-Person Syndrome
Opisthotonus, Anxiety, Anemia, Exaggerated startle response, Agoraphobia OMIM:184850
Sneddon Syndrome
Hemiplegia, Atrophic scars, Tremor OMIM:182410
Myopathy With Extrapyramidal Signs
Frequent falls, Dystonia, Choreoathetosis, Ataxia, Clonus, Chorea, Clumsiness, Abnormality of ext... OMIM:615673
Nipah Virus Disease
Myoclonus, Tremor ORPHA:99825
Adult-Onset Dystonia-Parkinsonism
Dystonia, Focal dystonia, Bradykinesia, Rigidity, Spasticity, Progressive extrapyramidal movement... ORPHA:199351
Aceruloplasminemia
Parkinsonism, Dystonia, Blepharospasm, Involuntary movements, Craniofacial dystonia, Ataxia, Gait... ORPHA:48818
Unilateral Polymicrogyria
Spastic tetraplegia, Involuntary movements, Hemiparesis, Myoclonus, Poor fine motor coordination,... ORPHA:268943
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Ataxia, Rigidity, Spasticity, Abnormality of coordination... ORPHA:442835
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Asplenia OMIM:602361
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Neurodegeneration With Brain Iron Accumulation 4
Parkinsonism, Dystonia, Oromandibular dystonia, Ataxia, Spasticity, Babinski sign, Abnormality of... OMIM:614298
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Tremor OMIM:612164
Classic Phenylketonuria
Paraplegia, Hypertonia, Hemiplegia, Tremor ORPHA:79254
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Hyponatremia, Hyperkalemia, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Paraplegia, Spasticity, Hemiparesis, Tremor OMIM:105210
Perry Syndrome
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168605
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Fasciculations, Polyminimyoclonus, Tremor OMIM:619574
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Anxiety, Wide nasal bridge, Dystonia, Exaggerated startle response ORPHA:438216
Myopathy, Mitochondrial, And Ataxia
Multiple lipomas, Dysmetria, Ataxia, Truncal ataxia, Dysdiadochokinesis, Limb ataxia, Tremor OMIM:617675
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Abnormal pyramidal sign, Dystonia, Head tremor, Oculomotor apraxia, Gait ataxia, Chorea, Progress... OMIM:606002
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, At... OMIM:234200
Tetanus
Opisthotonus, Spasticity of pharyngeal muscles, Tremor, Rigidity, Hypertonia ORPHA:3299
Progressive Supranuclear Palsy
Dystonia, Blepharospasm, Bradykinesia, Rigidity, Tremor ORPHA:683
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Parkinsonism, Oculogyric crisis, Cerebral palsy, Tremor ORPHA:1578
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Progressive psychomotor deterioration, Exaggerated startle resp... OMIM:268800
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hypoplastic spleen, Abnormality of the liver, He... ORPHA:699
Tay-Sachs Disease
Incoordination, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Fasciculations, Tremor... ORPHA:845
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Athetosis, Ataxia, Limb dystonia, Poor motor coordination, Rigidity, Chorea, Tremor ORPHA:25
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen, Wide nasal bridge OMIM:601186
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Bradykinesia, Ataxia, Rigidity, Babinski sign, Tremor OMIM:146500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Tremor ORPHA:713
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Serotonin Syndrome
Tremor, Rigidity, Clonus, Myoclonus, Hypertonia ORPHA:43116
Young-Onset Parkinson Disease
Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor ORPHA:2828
Vici Syndrome
Abnormal posturing OMIM:242840
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormal pyramidal sign, Spastic gait, Spastic dysarthria, Lower limb hypertonia, Babinski sign, ... ORPHA:447753
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Episodic... ORPHA:2131
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Short nose, Exaggerated startle response OMIM:617527
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Dystonia, Athetosis, Ataxia, Speech apraxia, Chorea, Hyperkinetic movements, Tremor OMIM:615356
Supranuclear Palsy, Progressive, 1
Parkinsonism, Axial dystonia, Bradykinesia, Limb dystonia, Rigidity, Eyelid apraxia, Retrocollis,... OMIM:601104
Tyrosinemia Type 2
Ataxia, Tremor ORPHA:28378
Niemann-Pick Disease Type C
Abnormal pyramidal sign, Frequent falls, Dystonia, Axial dystonia, Intention tremor, Cataplexy, L... ORPHA:646
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Short nose, Exaggerated startle response ORPHA:521426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Aicardi-Goutières Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Multiple joint contractures, Spastic tetraplegia, ... ORPHA:51
Metachromatic Leukodystrophy
Incoordination, Frequent falls, Dystonia, Ataxia, Progressive spasticity, Decerebrate rigidity, T... ORPHA:512
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Wide nasal bridge, Short nose, Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Anemia, Dystonia, Exaggerated startle response ORPHA:438213

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 Nsd3

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 Nsd3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Elevated NSD3 histone methylation activity drives squamous cell lung cancer. Nature (February 2021) Nsd3tm1a(EUCOMM)Hmgu 33536620

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MGI Allele Allele Type Produced
Nsd3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Nsd3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nsd3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nsd3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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