Gene Summary

Name:
Rho guanine nucleotide exchange factor (GEF) 11
Synonyms:
PDZ-RhoGEF,  Prg

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Arhgef11tm1b(KOMP)Wtsi HOM Early adult 1.97×10-11
increased aggression Arhgef11tm1b(KOMP)Wtsi HOM   Early adult 4.31×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  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)
Cerebellum  Wholemount images heterozygote Ambiguous
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 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)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder 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)
Liver N/A heterozygote 0.0% (0 of 2)
Lung 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)
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)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen 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)
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 0.0% (0 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 50% (1 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
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 0.0% (0 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Arhgef11 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 Arhgef11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
N-Acetylaspartate Deficiency
Truncal ataxia, Decreased body weight, Unsteady gait, Inguinal hernia, Stereotypy OMIM:614063
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Flexion contracture, Stereotypy, Failure to thrive, Spasticity OMIM:617393
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Spasticity ORPHA:356996
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Flexion contracture, Failure to thrive, Spasticity ORPHA:500545
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Hypertonia, Joint contracture of the 5th finger, Congenital c... ORPHA:352490
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Hyperinsulinemia, Insulin resistance, Poor motor coordination, Reduced intra... ORPHA:363400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Small for gestational age, Stereotypy, Failure to thrive, Hyperactivity OMIM:609425
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Immunodeficiency 8
Hyperactivity OMIM:615401
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Mental Retardation With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Stereotypy, Attention deficit hyperactivity disorde... OMIM:613670
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Arthrogryposis multiplex congenita, Spastic tetraplegia, Stereotypy OMIM:615282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... OMIM:615924
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity ORPHA:100973
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Difficulty walking, Waddling gait, Babinski sign, Stereotypy, Progressive s... ORPHA:280763
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Failure to thrive, Hyperactivity, Tetraplegia OMIM:274270
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Decreased body weight, M... ORPHA:561854
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Decreased body wei... OMIM:617695
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Mental Retardation, Autosomal Recessive 39
Stereotypy, Hyperactivity OMIM:615541
Christianson Syndrome
Dystonia, Arthrogryposis multiplex congenita, Truncal ataxia, Gait ataxia, Cachexia, Stereotypy ORPHA:85278
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk OMIM:618760
Norrie Disease
Aggressive behavior, Retinal dysplasia, Retinal detachment, Optic atrophy, Retinal fold OMIM:310600
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Spasticity OMIM:300983
Mental Retardation, Autosomal Dominant 7
Incoordination, Gait disturbance, Ataxia, Failure to thrive in infancy, Small for gestational age... OMIM:614104
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Myoclonus, Babinski sign, Stereotypy, Rigidity OMIM:600795
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Stereotypy, Stereotypical hand wringing, Spasti... OMIM:618917
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Overweight, Flexion contracture, Failure to thrive, Repetitive compulsive behav... ORPHA:391372
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Broad-based gait, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Shu... ORPHA:3077
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tremor, Ataxia, Inguinal hernia, Stereotypy, Type II diabetes ... ORPHA:10
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Stereotypy, Hyperactivity, Failure to thrive, Spasticity OMIM:300912
Obesity, Hyperphagia, And Developmental Delay
Stereotypy, Obesity OMIM:613886
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperactivity OMIM:605899
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Failure to thrive, Hyperactivity, Broad-based gait OMIM:617865
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Hypertonia, Ataxia, Myoclonus, Stereotypy OMIM:619092
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Stereotypy, Failure to thrive, Progressive spasticity DECIPHER:45
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, Stereotypy, Upper motor neuron dy... ORPHA:275864
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy ORPHA:457240
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Decreased body weight, Hyperactivity OMIM:618342
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Congenital diaphragmatic hernia, Stereotypy, Fai... ORPHA:261197
Sotos Syndrome 3
Hyperactivity OMIM:617169
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Stereotypy, Speech apraxia OMIM:618205
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Inguinal hernia, Lower limb spastic... ORPHA:485350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, St... ORPHA:778
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Hiatus hernia, Upper limb spasticity, Lower limb spasticity, Babinski sign, H... OMIM:609727
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Stereotypy, Hyperactivity OMIM:618504
Bilateral Generalized Polymicrogyria
Dystonia, Eyelid myoclonus, Paroxysmal dyskinesia, Oculogyric crisis, Spastic tetraplegia, Stereo... ORPHA:208447
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Stereotypy, Spasticity OMIM:612069
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Lennox-Gastaut Syndrome
Falls, Myoclonus, Hyperactivity ORPHA:2382
Inverted Duplicated Chromosome 15 Syndrome
Hernia, Stereotypy, Hyperactivity ORPHA:3306
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity OMIM:617773
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618906
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity ORPHA:411515
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking ORPHA:505652
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia, Stereotypy, Failure to thrive, Paraplegia ORPHA:927
Optic Atrophy 11
Dysmetria, Hyperkinetic movements, Ataxia, Hyperactivity OMIM:617302
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Spasticity OMIM:615286
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Gait disturbance, Poor coordination, Ataxia, Recurrent hand flapping ORPHA:544254
Potocki-Lupski Syndrome
Stereotypy, Small for gestational age, Failure to thrive, Hyperactivity OMIM:610883
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Inguinal hernia, Small for gestational age, Stereotypy, Hyperacti... OMIM:123450
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Inguinal hernia, Knee flexion contracture, Hyperactivity, Hip contracture, E... OMIM:616809
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Poor motor coordination, Poor fine motor coordination, Loss of ability to walk, Parki... ORPHA:79264
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Tongue thrusting, Recurrent hand flapping, Myoclonus, Hyperactivity, Gait imbalan... ORPHA:98794
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Oculogyric crisis, Stereotypy, Spasticity ORPHA:178469
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Smith-Magenis Syndrome
Increased body weight, Stereotypy, Hyperactivity OMIM:182290
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Abnormal pyramidal sign, Failure to thrive, Hyperactivity ORPHA:369939
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Unsteady gait, Stereotypy, Spasticity OMIM:617807
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Stereotypical hand wringing, Hypertonia, Small for gestational age, Myoclonus ORPHA:289266
Landau-Kleffner Syndrome
Gait ataxia, Speech apraxia, Slurred speech, Hyperactivity, Steppage gait, Frequent falls, Attent... ORPHA:98818
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Cachexia, Hyperactivity, Athetosis ORPHA:52503
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Decreased body weight, Spasticity OMIM:300958
Lamb-Shaffer Syndrome
Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction ORPHA:530983
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Difficulty walking, Gait disturbance, Spastic tetrapar... ORPHA:139396
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Stereotypy, Poor hand-eye coordination, Failure to thrive, Attention ... OMIM:300352
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Stereotypy OMIM:617808
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Type I diabetes mellitus, Stereotypy, Failure to thrive ORPHA:213
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Stereotypy ORPHA:411986
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Spastic tetraparesis, Flexion contracture, Abnormal pyramidal sign, A... ORPHA:35069
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Gait disturbance, Ataxia, Myoclonus, Stereotypy, Hyperacti... ORPHA:168491
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Tremor, Inability to walk, Overweight, Upper limb spa... OMIM:619229
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response,... OMIM:608643
Mental Retardation, Autosomal Recessive 13
Truncal obesity, Hyperactivity OMIM:613192
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Inguinal hernia, Attention deficit hyperactivity disorder, Congenital diaphragmati... OMIM:614294
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Chorea, Ataxia, Decreased body weight, Lower limb spasticity, Stereotypy, Prog... OMIM:300260
Pick Disease Of Brain
Stereotypy OMIM:172700
Rasmussen Subacute Encephalitis
Inability to walk, Hyperactivity, Hemiparesis, Hemidystonia, Involuntary movements, Attention def... ORPHA:1929
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypertonia, Joint contracture of the 5th finger, Umbilical hernia, Inguinal hernia, Stereotypy, J... OMIM:618914
2Q23.1 Microdeletion Syndrome
Stereotypy, Ataxia, Hyperactivity ORPHA:228402
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Stereotypy, Diabetes mellitus, Umbilical hernia ORPHA:500159
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Attention deficit hyperactivity disorder, Flexion contracture, Stereotypy OMIM:619293
Angelman Syndrome Due To A Point Mutation
Ataxia, Obesity, Tongue thrusting, Recurrent hand flapping, Gait imbalance, Broad-based gait ORPHA:411511
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Recurrent hand flapping, Stereotypy, Hyperactivity, Diabetes mellitus, Attention deficit hyperact... ORPHA:449291
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia, Hyperactivity OMIM:271980
Radio-Tartaglia Syndrome
Tremor, Ataxia, Stereotypy, Gait imbalance, Attention deficit hyperactivity disorder, Obesity OMIM:619312
2Q37 Microdeletion Syndrome
Umbilical hernia, Stereotypy, Congenital diaphragmatic hernia, Attention deficit hyperactivity di... ORPHA:1001
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Tremor, Gait ataxia, Abdominal obesity OMIM:300354
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity OMIM:614613
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Spasticity ORPHA:457260
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping OMIM:617268
Pitt-Hopkins-Like Syndrome 1
Stereotypy, Hyperactivity, Ataxia, Spasticity OMIM:610042
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Stereotypy, Obesity OMIM:615873
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Babinski sign, Scissor ... OMIM:619121
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity OMIM:275000
4Q21 Microdeletion Syndrome
Tremor, Stereotypy ORPHA:238750
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Stereotypy, Hyperactivity ORPHA:391307
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Hyperactivity,... ORPHA:43
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Stereotypy OMIM:613174
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperact... ORPHA:1942
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Arthrogryposis multiplex congenita, Ataxia, Stereotypy, Fasciculations, Tetraplegia, Pr... ORPHA:496641
3P25.3 Microdeletion Syndrome
Stereotypy, Attention deficit hyperactivity disorder, Ataxia, Knee flexion contracture ORPHA:435638
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:98784
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Tongue fasciculations, Congenital finger flexion c... ORPHA:166108
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Bradykinesia, Dysme... OMIM:610217
Smith-Magenis Syndrome
Gait disturbance, Failure to thrive in infancy, Stereotypy, Attention deficit hyperactivity disor... ORPHA:819
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Tremor, Inguinal hernia, Cachexia, Hyperactivity, Broad-based gait, Obesity ORPHA:85293
Brain-Lung-Thyroid Syndrome
Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, Ataxia, Falls, Myoclonus, F... ORPHA:209905
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia... ORPHA:522077
White-Sutton Syndrome
Incoordination, Inguinal hernia, Stereotypy, Congenital diaphragmatic hernia, Hyperactivity, Vent... ORPHA:468678
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Stereotypy, Failure to thrive, Attention deficit hyperactivity disorder ORPHA:476126
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Mental Retardation, Autosomal Dominant 34
Stereotypy, Broad-based gait OMIM:616351
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Ataxia, Obesity, Hyperactivity, Spasticity OMIM:618430
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Hypertonia, Stereotypy, Failure to thrive, Babinski sign, Spasticity OMIM:615802
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Camptodactyly, Ataxia, Umbilical hernia, Hyperactivity, Arth... ORPHA:369891
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Oculomotor apraxia, Torticollis, S... ORPHA:300570
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Hypoglycemia, Ataxia, Unsteady ... ORPHA:457279
Hyperlysinemia
Tremor, Clumsiness, Poor motor coordination, Spastic tetraparesis, Spastic diplegia, Neck hyperto... ORPHA:2203
Phelan-Mcdermid Syndrome
Cellulitis, Unsteady gait, Tongue thrusting, Stereotypy, Broad-based gait OMIM:606232
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Chorea, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
Angelman Syndrome
Inability to walk, Tremor, Ataxia, Tongue thrusting, Recurrent hand flapping, Myoclonus, Hyperact... ORPHA:72
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dystonia, Abnormality of extrapyramidal moto... OMIM:234200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Small for gestational age, Weight loss, Hyperactivity ORPHA:424
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Limb tremor, Hyperactivity, Broad-based gait, Obesity OMIM:105830
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Spasticity ORPHA:401777
Transketolase Deficiency
Attention deficit hyperactivity disorder, Type I diabetes mellitus, Stereotypy ORPHA:488618
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Hyperactivity, Cerebral... ORPHA:760
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Lower limb spasticity, Multiple joint contractures, Stereotypy, Hyperactivity, Clonus... ORPHA:447997
21Q22.11Q22.12 Microdeletion Syndrome
Camptodactyly, Failure to thrive in infancy, Tongue thrusting, Hyperactivity, Stereotypical body ... ORPHA:261323
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Stereotypy ORPHA:1727
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Large for gestational age, Neonatal hypoglycemia, Hyperactivity ORPHA:457485
Dilated Cardiomyopathy With Ataxia
Dystonia, Neonatal hypoglycemia, Ataxia, Action tremor, Lower limb spasticity, Repetitive compuls... ORPHA:66634
Congenital Disorder Of Glycosylation, Type Iia
Stereotypy, Unsteady gait, Hypertonia, Failure to thrive OMIM:212066
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Gait disturbance, Achilles tendon contracture, Congenital... ORPHA:363528
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Opisthotonus, Myoclonus, Hyperactivity, Spasticity OMIM:103050
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Tip-toe gait, Stereotypical body rocking ORPHA:293939
7Q11.23 Microduplication Syndrome
Inguinal hernia, Unsteady gait, Congenital diaphragmatic hernia, Stereotypy, Dysmetria, Hyperacti... ORPHA:96121
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Ataxia, Hypoglycemia, Recurrent hand flapping, Failure... ORPHA:3008
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Gait disturbance, Small for gestational age, Stereotypy, Failure t... ORPHA:464311
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements, Failure to thrive, Hyperactivity ORPHA:525731
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Stereotypy, Cataplexy, Spasticity OMIM:607625
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:619103
Kleefstra Syndrome
Hernia, Stereotypy, Obesity ORPHA:261494
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss, Hyperactivity ORPHA:99819
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Tongue thrusting, Broad-based gait ORPHA:98795
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Ogden Syndrome
Inguinal hernia, Hypertonia, Stereotypy, Minimal subcutaneous fat OMIM:300855
Mucopolysaccharidosis, Type Iiic
Hernia, Hyperactivity OMIM:252930
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Hernia, Failure to thrive, Hyperactivity OMIM:617052
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Stereotypy OMIM:618825
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Spastic tetraparesis, Failure to thrive OMIM:619179
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Multiple jo... ORPHA:468631
Macrocephaly-Developmental Delay Syndrome
Stereotypy ORPHA:397612
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Stereotypy, Speech apraxia ORPHA:529965
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Multiple joint contractures, Small for gestational age, Stereotypy, Failure to ... ORPHA:464306
Glass Syndrome
Camptodactyly, Inguinal hernia, Broad-based gait, Hyperactivity OMIM:612313
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Limb hypertonia, Limb dystonia, Stereotypy, Spasticity ORPHA:457351
Childhood Absence Epilepsy
Punding, Limb myoclonus, Attention deficit hyperactivity disorder ORPHA:64280
Kleefstra Syndrome 1
Stereotypy, Obesity OMIM:610253
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Ataxia ORPHA:2479
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Tremor, Dystonia, Umbilical hernia, Myoclonus, Failure to thrive, Hyperactivity,... ORPHA:1934
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Contractures of the joints of the lower limbs, Stereotypy, Failure to thrive, Repeti... ORPHA:513456
Choreoacanthocytosis
Hypertonia, Head titubation, Weight loss, Progressive inability to walk, Falls, Hyperactivity, Ph... ORPHA:2388
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity OMIM:609152
Bainbridge-Ropers Syndrome
Inability to walk, Hypertonia, Recurrent hand flapping ORPHA:352577
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Stereotypy, Attention deficit hyperactivity disorder, Decreased body weight OMIM:619005
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Citrullinemia Type Ii
Decreased body mass index, Lethargy, Tremor, Hyperactivity ORPHA:247585
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Spastic tetraparesis, Failure to thrive, Hyperactivity, Fr... ORPHA:239
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypertonia, Opisthotonus, Hypereosinophilia, Stereotypy, Elbow flexion contrac... ORPHA:508533
Brooks-Wisniewski-Brown syndrome
Flexion contracture, Spastic diplegia, Poor coordination, Small for gestational age, Hyperactivity OMIM:300612
16P11.2P12.2 Microdeletion Syndrome
Tics, Camptodactyly of finger, Hyperactivity ORPHA:261211
Mucopolysaccharidosis, Type Iiid
Flexion contracture, Hyperactivity OMIM:252940
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus, Stereotypy OMIM:300672
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Inguinal hernia, Stereotypy, Obesity OMIM:618653
Wiedemann-Steiner Syndrome
Stereotypy, Failure to thrive, Hyperactivity ORPHA:319182
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Camptodactyly, Flexion contracture, Spastic diplegia, Poor coordination, Small for gestational ag... OMIM:309590
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Hyperactivity OMIM:256800
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Stereotypy, Obesity ORPHA:177907
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hemiparesis, Obesity, Tongue thrusting, Failure to thrive, Broad-based gait ORPHA:369950
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Failure to thrive, Hyperactivity, Large for gestational age, Attention deficit h... OMIM:607721
Cardiofaciocutaneous Syndrome 1
Hypertonia, Oculomotor apraxia, Tongue thrusting, Failure to thrive OMIM:115150
Mucopolysaccharidosis Type 2
Umbilical hernia, Inguinal hernia, Flexion contracture of digit, Stereotypy, Hyperactivity, Contr... ORPHA:580
Oculocerebrorenal Syndrome Of Lowe
Abnormal dental enamel morphology, Atypical scarring of skin, Umbilical hernia, Inguinal hernia, ... ORPHA:534
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Failure to thrive in infancy, Diabetes mellitus, Hyperactiv... ORPHA:96149
Hypotonia, Ataxia, And Delayed Development Syndrome
Gait ataxia, Truncal ataxia, Speech apraxia, Ataxia, Stereotypy, Dysmetria, Broad-based gait OMIM:617330
Argininemia
Spastic paraparesis, Progressive spastic quadriplegia, Spastic gait, Hyperactivity, Frequent falls OMIM:207800
Monosomy 9Q22.3
Large for gestational age, Umbilical hernia, Hyperactivity ORPHA:77301
Kinsship Syndrome
Stereotypy, Spastic tetraparesis, Myoclonus, Failure to thrive OMIM:619297
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Gait disturbance, Failure to thrive in infancy, Ataxia, Inguinal hernia, Small for ge... ORPHA:268261
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Apraxia, Parkinsonism OMIM:607485
Norrie Disease
Hypertonia, Cachexia, Stereotypy, Failure to thrive, Clonus, Diabetes mellitus, Attention deficit... ORPHA:649
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Stereotypy, Hyperactivity, Failure to thrive, Obesity ORPHA:353281
1P36 Deletion Syndrome
Camptodactyly of finger, Gait disturbance, Hemiplegia/hemiparesis, Stereotypy, Failure to thrive,... ORPHA:1606
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Flexion contracture, Poor coordination, Keloids, Truncal obesity, Unsteady gai... OMIM:180849
Tuberous Sclerosis Complex
Shagreen patch, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Hyperac... ORPHA:805
Arboleda-Tham Syndrome
Lower limb hypertonia, Gait imbalance, Stereotypy OMIM:616268
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Stereotypy OMIM:616682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Keloids, Corneal scarring, Failure to thrive, Stereotypy, Hyperactivity, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Keloids, Corneal scarring, Failure to thrive, Stereotypy, Hyperactivity, Obesity ORPHA:353277
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Camptodactyly of finger, Failure to thrive, Stereotypy, Joint contracture of t... OMIM:309000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy ORPHA:508498
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Involuntary movements, Exaggerated startle response, Myoclonus, Ster... ORPHA:438213
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity ORPHA:280651
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypertonia, Camptodactyly, Spastic tetraparesis, Stereotypy, Congenital diaphragmatic hernia, Con... OMIM:301044
Monosomy 22Q13.3
Hyperactivity, Umbilical hernia, Obesity ORPHA:48652
Wolf-Hirschhorn Syndrome
Stereotypy, Small for gestational age, Failure to thrive OMIM:194190
Coffin-Siris Syndrome 12
Stereotypy, Failure to thrive OMIM:619325
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Camptodactyly, Poor fine motor coordination, Flexion contracture, Failure to t... ORPHA:261537
Mowat-Wilson Syndrome
Inability to walk, Camptodactyly, Flexion contracture, Decreased body weight, Ataxia, Stereotypy,... ORPHA:2152
Histidinemia
Hyperactivity ORPHA:2157
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Camptodactyly, Poor fine motor coordination, Flexion contracture, Failure to t... ORPHA:261552

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 Arhgef11

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 Arhgef11.

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

Title Journal IMPC Allele PubMed ID
Arhgef1 Plays a Vital Role in Platelet Function and Thrombogenesis. Journal of the American Heart Association (May 2019) Arhgef11tm1a(KOMP)Wtsi PMC6512111

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Arhgef11tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Arhgef11tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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