Gene Summary

Name:
theg spermatid protein like
Synonyms:
1700023E05Rik

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
increased circulating chloride level Thegltm1b(KOMP)Wtsi HOM Early adult 1.56×10-05
decreased cornea thickness Thegltm1b(KOMP)Wtsi HOM Early adult 3.67×10-05
tremors Thegltm1b(KOMP)Wtsi HOM Early adult 6.86×10-06

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
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 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)
cecum 3.23% (12 of 371)
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)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Thegl 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 Thegl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... OMIM:160120
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
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
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
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Glutathionuria
Tremor OMIM:231950
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Cataract OMIM:312910
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Eye poking OMIM:204100
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function, Cataract OMIM:165300
Leber Congenital Amaurosis 1
Keratoconus, Hyperthreoninemia, Cataract, Eye poking OMIM:204000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... OMIM:614561
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Brittle Cornea Syndrome 1
Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Keratoconus OMIM:229200
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Spastic dysarthria, Lower limb spasticity, Cataract, Progressive spastic paraplegia ORPHA:401830
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Cataract, Spasticity OMIM:278780
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... OMIM:128230
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Leber Congenital Amaurosis
Keratoconus, Cataract, Hemiplegia/hemiparesis ORPHA:65
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:607317
Encephalopathy, Progressive, With Or Without Lipodystrophy
Myoclonus, Tremor, Ataxia, Hypertriglyceridemia, Tetraparesis, Spasticity, Abnormal pyramidal sign OMIM:615924
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... ORPHA:98762
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Developmental cataract, Hypertonia ORPHA:1368
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Ataxia, Myoclonus, Tremor OMIM:614018
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Scissor gait, Bradykinesia, Hypermanganesemia, Tremor, Ankle clonus, Spasticity, P... ORPHA:521406
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Rigidity, Elevated circulating creatine kinase concentration, Bradykinesia, Tremor, A... OMIM:612953
Urocanase Deficiency
Blue irides, Ataxia, Tremor OMIM:276880
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
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
Hyperphenylalaninemia, Bh4-Deficient, C
Choreoathetosis, Myoclonus, Hyperphenylalaninemia, Tremor, Hypertonia OMIM:261630
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Tremor ORPHA:66633
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:600116
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Truncal ataxia, Tremor OMIM:616127
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Urocanic Aciduria
Abnormal circulating histidine concentration, Ataxia, Truncal ataxia, Action tremor, Gait ataxia ORPHA:210128
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Microtriplication 11Q24.1
Speech apraxia, Keratoconus, Hyperlipidemia, Hyperkinetic movements ORPHA:289522
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... ORPHA:251282
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia OMIM:600363
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Behr Syndrome
Progressive spasticity, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Ataxia, Gait ataxia OMIM:618387
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Spinocerebellar Ataxia 12
Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head tremor, Parkins... OMIM:604326
Hyperphenylalaninemia, Bh4-Deficient, A
Rigidity, Choreoathetosis, Bradykinesia, Hyperphenylalaninemia, Tremor, Ataxia, Hypertonia, Parki... OMIM:261640
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Saccharopinuria
Hypercystinemia, Abnormality of circulating enzyme level, Hyperammonemia, Tremor, Spastic diplegi... ORPHA:3124
Retinitis Pigmentosa
Cataract, Keratoconus ORPHA:791
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 30
Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Ataxia, Increased serum py... OMIM:619405
Brittle Cornea Syndrome
Decreased corneal thickness, Corneal erosion, Corneal scarring, Keratoglobus, Corneal dystrophy ORPHA:90354
Hypermanganesemia With Dystonia 2
Babinski sign, Bradykinesia, Tremor, Ankle clonus, Spasticity, Parkinsonism OMIM:617013
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Arthrogryposis, Distal, Type 5
Keratoglobus, Astigmatism, Keratoconus OMIM:108145
Corticobasal Syndrome
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... ORPHA:454887
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Upper motor neuro... ORPHA:216873
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Transient hyperphenylalaninemia, Spasticity OMIM:612716
Crigler-Najjar Syndrome Type 1
Tremor, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Hypertonia, Lower limb spasticity ORPHA:293967
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor OMIM:182920
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Rigidity, Abnormality of extrapyramidal motor function, Bradykin... OMIM:613280
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Tongue fasciculations ORPHA:276435
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia OMIM:619028
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Pseudobulbar paralysis, Tremor, Tetraplegia, Cataract, Spasticity, Spastic paraplegia OMIM:616586
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:616719
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm ORPHA:420485
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Gillespie Syndrome
Postural tremor, Hypoplasia of the iris, Aniridia, Ataxia, Slurred speech OMIM:206700
Neurodegeneration With Brain Iron Accumulation 5
Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinsonism, Spast... OMIM:300894
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Spinocerebellar Ataxia 48
Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia OMIM:618093
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus OMIM:608105
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Abnormal pyramidal sign, Incoordination, Ataxia OMIM:614947
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Rigidity, Chorea, Bradykinesia, Limb dysmetria, Tremor, Dysdiadochokines... OMIM:213600
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Decreased circulating ferritin concentration, Rigidity, Choreoathetosis, Chorea, B... OMIM:606159
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity OMIM:615010
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis OMIM:612126
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Rigidity, Tremor OMIM:618090
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Keratoconus, Spasticity ORPHA:401777
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Choreoathetosis, Hyperphenylalaninemia, Tremor, Hyperkinetic movements OMIM:233910
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations OMIM:159950
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal pyramidal sign, Limb ataxia, ... OMIM:617145
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Tremor OMIM:224500
Dystonia 24
Torticollis, Head tremor, Blepharospasm OMIM:615034
Cataract, Ataxia, Short Stature, And Mental Retardation
Postural tremor, Ataxia, Posterior subcapsular cataract OMIM:300619
Primary Dystonia, Dyt2 Type
Involuntary movements, Blepharospasm, Torticollis, Tremor ORPHA:99657
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:313200
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dysmetria, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Incoordination, Aprax... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Leukodystrophy, Hypomyelinating, 6
Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia, Truncal ... OMIM:618877
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramidal sign OMIM:617435
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Familial Dyskinesia And Facial Myokymia
Chorea, Resting tremor, Myoclonus, Limb hypertonia ORPHA:324588
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia ORPHA:101075
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Myoclonus, Progressive cerebellar ataxia ORPHA:139485
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor, Ataxia, Poor fine motor coord... ORPHA:79263
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Stereotypy OMIM:619470
Hsd10 Disease
Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis ORPHA:391417
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Choreoathetosis, Spastic gait, Juvenile cataract, Bradykinesia, Spastic tetraplegi... OMIM:300055
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Limb fasciculations, Tremor ORPHA:90117
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Choreoathetosis, Hypercholesterolemia, Tremor, Oculomotor apraxia, Ataxia, Truncal ataxia, Hypoal... OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Hypertonia, Spasticity OMIM:609260
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ga... ORPHA:98773
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating neopterin concentration, Cerebral palsy, Hyperphenylalaninemia, Hypomagnesem... ORPHA:1578
Beta-Propeller Protein-Associated Neurodegeneration
Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Angelman Syndrome
Myoclonus, Tongue thrusting, Tremor, Ataxia, Iris hypopigmentation, Astigmatism, Recurrent hand f... ORPHA:72
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity ORPHA:240085
Peroxisome Biogenesis Disorder 5B
Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Elevated levels of phytanic acid OMIM:614867
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Bradykinesia, Extrapyramidal muscular rigidity... ORPHA:99750
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Tongue thrusting, Tremor, Stereotypical hand wringing, Apr... ORPHA:3095
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus ORPHA:2590
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Poor fine motor coordination, Keratoconus ORPHA:542306
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia OMIM:614831
4H Leukodystrophy
Dysmetria, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Tremor, Ataxia,... ORPHA:289494
Spinocerebellar Ataxia 42
Babinski sign, Spastic gait, Spastic ataxia, Tremor, Ataxia, Abnormal pyramidal sign OMIM:616795
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia ORPHA:101078
Kufor-Rakeb Syndrome
Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Paraparesis, Tremor, Parkinsonism ... OMIM:606693
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Spasticity, Gait ataxia ORPHA:1170
Spinocerebellar Ataxia 8
Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal pyramidal sign OMIM:608768
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Parkinsonism, Bradykinesia, Hemiparesis ORPHA:306669
Xeroderma Pigmentosum, Complementation Group F
Tremor, Astigmatism, Ataxia OMIM:278760
Classic Phenylketonuria
Paraplegia, Hyperphenylalaninemia, Tremor, Hypertonia, Cataract, Hemiplegia ORPHA:79254
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Bradykinesia, Parkinsonism with favorable respons... ORPHA:53351
Aceruloplasminemia
Involuntary movements, Aceruloplasminemia, Elevated hepatic iron concentration, Rigidity, Tortico... ORPHA:48818
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Dysdiadochokinesis, Truncal ataxia, Tremor OMIM:610185
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnormal pyramidal sign, Choreoa... ORPHA:99
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Tremor, Spasticity, Apraxia, Gait ataxia OMIM:617810
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Cataract OMIM:617248
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Myoclonus, Tremor, Ataxia, Hypertriglyceridemia, Tetraparesis, Spasticit... ORPHA:363400
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Ataxia, Paraparesis ORPHA:99014
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Myoclonus, Progressive cerebellar... ORPHA:101
Jaberi-Elahi Syndrome
Choreoathetosis, Dysmetria, Tremor, Cataract, Spasticity, Gait ataxia OMIM:617988
Developmental And Epileptic Encephalopathy 42
Athetosis, Ataxia, Hypertonia, Tremor OMIM:617106
Gerstmann-Straussler Disease
Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticity, Parkinsonism, Lim... OMIM:137440
Spinocerebellar Ataxia Type 27
Hand tremor, Tremor, Truncal ataxia, Limb ataxia, Gait ataxia ORPHA:98764
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Parkinson Disease 8, Autosomal Dominant
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607060
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function ORPHA:178509
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Tremor, Astigmatism, Hypertonia, Ataxia OMIM:619556
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Blepharospasm, Tremor OMIM:607671
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Tremor, Incoordination OMIM:302800
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Ataxia With Vitamin E Deficiency
Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnormal pyramidal sign, Hemiplegia/he... ORPHA:96
Oculopharyngodistal Myopathy 3
Elevated circulating creatine kinase concentration, Ataxia, Tremor OMIM:619473
Alagille Syndrome
Abnormal pupil morphology, Corneal dystrophy, Keratoconus ORPHA:52
Myopathy With Extrapyramidal Signs
Clumsiness, Clonus, Choreoathetosis, Elevated circulating creatine kinase concentration, Hyperval... OMIM:615673
Nail-Patella Syndrome
Lester's sign, Microphakia, Antecubital pterygium, Cataract, Microcornea, Keratoconus OMIM:161200
Sialidosis Type 2
Tremor, Ataxia, Corneal opacity ORPHA:87876
Warburg-Cinotti Syndrome
Symblepharon, Decreased corneal thickness, Corneal neovascularization, Limbal stem cell deficiency OMIM:618175
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Spastic ataxia, Tremor, Progressive cerebellar... ORPHA:137898
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
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Myoclonus, Blepharospasm OMIM:607876
Costello Syndrome
Keratoconus ORPHA:3071
Infantile Bartter Syndrome With Sensorineural Deafness
Clumsiness, Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin... ORPHA:89938
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Rigidity, Cerebral palsy, Bradykinesia, Tremor ORPHA:70594
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:616505
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
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor OMIM:615578
Gapo Syndrome
Keratoconus ORPHA:2067
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
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Frequent falls, Lower limb spasticity, Tremor, Tetraplegia, Spastic diplegia, Slurred... ORPHA:206443
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Chorea, Conjunctival telangiectasia, Progress... OMIM:606002
Classic Progressive Supranuclear Palsy Syndrome
Conjunctival hyperemia, Parkinsonism, Bradykinesia, Tremor, Parkinsonism with favorable response ... ORPHA:240071
Sneddon Syndrome
Tremor, Hemiplegia OMIM:182410
Sialidosis Type 1
Myoclonus, Tremor, Ataxia, Slurred speech, Corneal opacity, Cataract ORPHA:812
Parkinsonism-Dystonia 2, Infantile-Onset
Tremor, Parkinsonism, Gait ataxia, Incoordination OMIM:618049
Tyrosinemia Type 2
Tremor, Ataxia, Corneal opacity ORPHA:28378
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Hypertonia, Cataract OMIM:608093
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Amish Nemaline Myopathy
Tremor ORPHA:98902
Brain Dopamine-Serotonin Vesicular Transport Disease
Tremor, Abnormality of coordination, Hypertonia, Dysdiadochokinesis, Spastic tetraparesis, Ataxia... ORPHA:352649
Pyruvate Dehydrogenase Deficiency
Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal pyramidal sign ORPHA:765
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Blepharospasm, Tremor OMIM:128100
Tetanus
Opisthotonus, Rigidity, Elevated circulating creatine kinase concentration, Spasticity of pharyng... ORPHA:3299
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Abnormality of coordination,... ORPHA:442835
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
Parkinson Disease 20, Early-Onset
Rigidity, Eyelid apraxia, Bradykinesia, Tremor, Parkinsonism OMIM:615530
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Ataxia, Cataract, Tremor ORPHA:79095
O'Sullivan-Mcleod Syndrome
Tremor, Fasciculations ORPHA:99965
Adult-Onset Dystonia-Parkinsonism
Clumsiness, Abnormal circulating creatine kinase concentration, Progressive extrapyramidal moveme... ORPHA:199351
Adult-Onset Autosomal Dominant Leukodystrophy
Babinski sign, Clonus, Head titubation, Dysmetria, Spastic gait, Intention tremor, Tremor, Ataxia... ORPHA:99027
Arterial Tortuosity Syndrome
Keratoglobus, Keratoconus ORPHA:3342
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Mildly elevated creatine kinase, Fasciculations, Tremor, Parkinsonism ORPHA:329478
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia OMIM:618056
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Bradykinesia, Iris atrophy, Tremor, Ataxia, Parkinsonism OMIM:146500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia, Hyperbilirubinemia ORPHA:713
Gapo Syndrome
Keratoconus OMIM:230740
Parkinson Disease, Late-Onset
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:168600
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic tetraplegia, Spastic paraplegia OMIM:612164
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Elevated circulating creatine kinase concentration, Abnormality of extrapyramidal ... OMIM:614298
Amyloidosis, Hereditary, Transthyretin-Related
Paraplegia, Hemiparesis, Tremor, Ataxia, Spasticity OMIM:105210
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Fasciculations, Vocal cord paresis OMIM:619574
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Decreased corneal sensation, Recurrent corneal erosions, Limbal stem ... ORPHA:2363
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Developmental cataract, Spastic gait, Spastic dysarthria, Tremor, Abnormal pyramid... ORPHA:447753
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Keratoconus OMIM:225400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mildly elevated creatine kinase ORPHA:397744
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Myoclonus, Tongue thrusting, Tremor, Ataxia, Iris hypopigmentation, Recurrent hand flapping ORPHA:98794
Serotonin Syndrome
Mydriasis, Clonus, Rigidity, Myoclonus, Tremor, Hypertonia ORPHA:43116
Myopathy, Mitochondrial, And Ataxia
Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis... OMIM:617675
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Athetosis, Elevated circulating creatine kinase concentration, Chorea, Speech apraxia, Tremor, At... OMIM:615356
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Frequent falls, Dysmetria, Myoclonus, Exaggerated startle res... ORPHA:845
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperalaninemia, Tremor, Intention tremor, Hyperammonemia, Ataxia, Cataract OMIM:614052
Wilson Disease
Tremor, High nonceruloplasmin-bound serum copper, Kayser-Fleischer ring, Poor motor coordination OMIM:277900
Perry Syndrome
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168605
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Increased circulating inosine concentration, Tremor, Ataxia, Spastic diplegia, Tetr... OMIM:613179
Hyperlysinemia
Clumsiness, Hypoornithinemia, Opisthotonus, Poor motor coordination, Dysmetria, Hyperammonemia, T... ORPHA:2203
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Abnormal... ORPHA:3008
Progressive Supranuclear Palsy
Tremor, Blepharospasm, Bradykinesia, Rigidity ORPHA:683
Charcot-Marie-Tooth Disease Type 4B2
Buphthalmos, Vocal cord paralysis, Tremor, Poor fine motor coordination, Cataract, Developmental ... ORPHA:99956
Alternating Hemiplegia Of Childhood
Mydriasis, Rigidity, Choreoathetosis, Paroxysmal dyskinesia, Chorea, Tremor, Oculomotor apraxia, ... ORPHA:2131
Thyrotoxic Periodic Paralysis
Hyperkalemia, Paralysis, Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine ki... ORPHA:79102
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Rigidity, Choreoathetosis, Eyelid apraxia, Abnormality of extrapyramidal motor func... OMIM:234200
Methylmalonic Aciduria, Cbla Type
Tremor, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia OMIM:251100
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Ch... ORPHA:94093
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Elevated circulating creatine kinase concentration, Clonus, Tremor OMIM:619424
Intrahepatic Cholestasis Of Pregnancy
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Ataxia-Telangiectasia
Choreoathetosis, Myoclonus, Conjunctival telangiectasia, Tremor, Ataxia, Elevated alpha-fetoprotein OMIM:208900
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Hypermobile Ehlers-Danlos Syndrome
Keratoconjunctivitis sicca, Keratoconus ORPHA:285
Scorpion Envenomation
Mydriasis, Hypokalemia, Myoclonus, Tremor, Increased circulating NT-proBNP concentration, Ataxia,... ORPHA:466677
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus, Hypokalemia ORPHA:286
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
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 Thegl

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 Thegl.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A novel analytical method for d-glucosamine quantification and its application in the analysis of chitosan degradation by a minimal enzyme cocktail. Carbohydrate research (July 2016) Thegltm1a(KOMP)Wtsi 27423879
Genome engineering uncovers 54 evolutionarily conserved and testis-enriched genes that are not required for male fertility in mice. Proceedings of the National Academy of Sciences of the United States of America (June 2016) Thegltm1a(KOMP)Wtsi PMC4948324

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MGI Allele Allele Type Produced
Thegltm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Thegltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Thegltm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Thegltm45081(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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