Gene Summary

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

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 aggression Arhgef11tm1b(KOMP)Wtsi HOM   Early adult 3.84×10-05
abnormal retina morphology Arhgef11tm1b(KOMP)Wtsi HOM Early adult 1.52×10-11

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 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 555)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
uterus 0.36% (2 of 554)
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 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

Auditory Brain Stem Response

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

4 Images

Immunophenotyping

Panel A FCS file(s)

7 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
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Spasticity ORPHA:356996
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Ankle clonus, Babinski sign, Spasticity, Spastic tetraplegia, Ankle flexion contra... OMIM:616657
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Truncal ataxia, Inguinal hernia OMIM:614063
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Spasticity, Flexion contracture OMIM:617393
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity DECIPHER:8
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity, Flexion contracture ORPHA:500545
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Joint contracture of the hand, Inguinal hernia, Smal... ORPHA:352490
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Hyperactivity, Tremor, Elbow flexion contracture, Spastic tetraparesis OMIM:619470
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hyp... ORPHA:363400
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Gait ataxia OMIM:609425
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder, Obesity, Failure to t... OMIM:613670
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia, Arthrogryposis multiplex congenita OMIM:615282
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Poor coordination OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Clumsiness, Hyperactivity, Recurrent hand flapping ORPHA:100973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Hyperactivity OMIM:239500
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Motor stereotypy, Hyperactivity, Recurrent hand flapping, Cerebral palsy, Myoclonu... OMIM:617600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity OMIM:615924
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Myoclonus, Rigidity, Chorea, ... ORPHA:248111
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia OMIM:617830
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia OMIM:619150
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Tetraplegia, Hypertonia OMIM:274270
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Spasticity, Chorea ORPHA:88616
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Spasticity OMIM:617820
Foxg1 Syndrome
Motor stereotypy, Decreased body weight, Myoclonus, Hyperkinetic movements, Stereotypical hand wr... ORPHA:561854
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements OMIM:618218
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Spasticity, ... ORPHA:280763
Intellectual Developmental Disorder, Autosomal Dominant 26
Hypertonia, Hyperactivity, Inguinal hernia, Small for gestational age, Cerebral palsy, Arthrogryp... OMIM:615834
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Flexion contracture, Oromotor apraxia, Attention deficit hyperactivity disorde... ORPHA:391372
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Hyperactivity, Small for gestational age, Stereotypical hand wringing, ... OMIM:614104
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Hyperactivity, Dysmetria OMIM:618090
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination OMIM:617182
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Type II diabetes mellitus, Inguinal hernia, Tremor, Attention deficit h... ORPHA:10
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Decreased body weight, Hyperactivity, Tremor, Attention deficit hyperactivity d... OMIM:618342
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, Hyperactivity, Spasticity OMIM:618718
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity OMIM:613886
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Ataxia, Decreased body weight, Limb ataxia, Poor coordination, Spasticity OMIM:617695
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Christianson Syndrome
Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Arthrogryposis multiplex congenita ORPHA:85278
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormali... ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Hyperactivity OMIM:615541
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 13
Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Poor coordination OMIM:619717
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia OMIM:612716
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Motor tics OMIM:619927
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Resting tremor, Parkinsonism, Tremor, Obesity, Lower limb spasticity ORPHA:3077
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis OMIM:619317
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy OMIM:619690
Atypical Rett Syndrome
Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrusting, Limb myoclonus,... ORPHA:3095
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Xq28 (MECP2) duplication
Progressive spasticity, Failure to thrive, Motor stereotypy, Gait ataxia DECIPHER:45
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Hiatus hernia, Babinski sign, Spastic paraplegia, Clonus, Upper limb spasticity, L... OMIM:609727
Potocki-Lupski Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age OMIM:610883
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity, Hernia ORPHA:3306
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Failure to thrive, Congenital diaphragmatic hernia, Speech apraxia, Choreoathet... ORPHA:261197
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping OMIM:620021
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Cyanosis, Tongu... OMIM:619580
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:618504
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Overweight, Recurrent hand flapping OMIM:615032
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Attention deficit hyperactivity disorder, Tics, Recurrent hand flapping OMIM:617788
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Tremor, Upper limb spasticity, Overweight ORPHA:457240
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Hyperactivity, Small for gestational age, Truncal obesity, Hypoglycemia, Atten... ORPHA:73272
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity OMIM:600795
Shukla-Vernon Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:301029
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing, Small for gestational age ORPHA:289266
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity, Umbilical hernia OMIM:617751
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Hyperactivity, Inguinal hernia, Small for gestational age OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Failure to thrive, Ataxia, Hypertonia, Recurrent hand flapping, Attention defic... OMIM:300986
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Cln5 Disease
Ataxia, Poor gross motor coordination, Hyperactivity, Clumsiness, Dysmetria, Dysdiadochokinesis, ... ORPHA:228360
Galloway-Mowat Syndrome 6
Motor stereotypy, Decreased body weight OMIM:618347
Smith-Magenis Syndrome
Motor stereotypy, Increased body weight, Hyperactivity OMIM:182290
Coffin-Siris Syndrome 6
Motor stereotypy, Attention deficit hyperactivity disorder, Tics OMIM:617808
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Abnormality of extrapyramidal m... ORPHA:275864
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Hyperactivity ORPHA:530983
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617044
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping OMIM:615516
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Umbilical hernia, Diabetes mellitus ORPHA:500159
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Decreased body weight, Rigidity, Chorea, Progressive spasticity, Repeti... OMIM:300260
Snijders Blok-Campeau Syndrome
Motor stereotypy, Speech apraxia OMIM:618205
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Camptodactyly, Obesity ORPHA:412035
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Inguinal hernia, Joint contracture of the 4th finger, Cerebral pals... OMIM:618914
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Poor ... ORPHA:79264
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Hyperactivity ORPHA:228402
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Ataxia, Recurrent hand flapping, Poor coordination ORPHA:544254
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:618825
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Stereotypical hand wringing, Hypertonia OMIM:619854
Cdkl5-Deficiency Disorder
Stereotypical hand wringing ORPHA:505652
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... OMIM:619121
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Hyperactivity, Overweight, Small for gestational age OMIM:617796
D-Glyceric Aciduria
Failure to thrive, Opisthotonus, Myoclonus, Tongue thrusting, Hypoglycemia, Spasticity, Spastic t... OMIM:220120
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Failure to thrive, Ataxia, Paraplegia ORPHA:927
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Motor stereotypy, Attention deficit hyperactivity disorder, Flexion contracture OMIM:619293
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Hyperactivity, Cachexia, Chorea, Athetosis ORPHA:52503
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, Hyperactivity, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor, Obesity ORPHA:98794
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Decreased body weight, Upper limb spasticity, Myoclonus, Stereotypical ... OMIM:619229
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorde... ORPHA:449291
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping OMIM:300624
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus ORPHA:411986
Cystinosis
Motor stereotypy, Failure to thrive, Abnormal pyramidal sign, Type I diabetes mellitus ORPHA:213
2Q37 Microdeletion Syndrome
Motor stereotypy, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Umbi... ORPHA:1001
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Recurrent hand flapping, Tremor, Speech apraxia, Attention deficit hyperactivity dis... OMIM:619680
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Failure to thrive, Ataxia, Hyperactivity, Recurrent hand flapping, Stereotypica... OMIM:300912
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Hyperactivity, Spasticity OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy OMIM:615637
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping OMIM:617268
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Failure to thrive, Hypertonia, Speech apraxia, Attention deficit hyperactivity ... OMIM:300352
White-Sutton Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Tics, Hypogl... OMIM:616364
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Cortical myoclonus, Hyperactivity, Myoclonus, Spasticity ORPHA:168491
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Radio-Tartaglia Syndrome
Motor stereotypy, Ataxia, Tremor, Attention deficit hyperactivity disorder, Obesity OMIM:619312
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:313892
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Obesity, Hyperactivity OMIM:615873
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Small for gestational age OMIM:613174
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Incoordination, Gait ataxia, Umbilical hernia OMIM:616579
X-Linked Cerebral Adrenoleukodystrophy
Hamstring contractures, Ataxia, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Hemiparesi... ORPHA:139396
Bilateral Generalized Polymicrogyria
Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus ORPHA:208447
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Failure to thrive, Hypertonia, Babinski sign, Enamel hypoplasia, Spasticity OMIM:615802
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity ORPHA:391307
Coffin-Siris Syndrome 7
Motor stereotypy, Hyperactivity OMIM:618027
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia OMIM:619877
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor ORPHA:238750
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder, Knee flexion contracture ORPHA:435638
Smith-Magenis Syndrome
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder, Failure to thrive in infancy ORPHA:819
Rett Syndrome
Gait apraxia, Cachexia, Stereotypical hand wringing, Truncal ataxia, Gait ataxia, Spasticity OMIM:312750
Rett Syndrome
Motor stereotypy, Failure to thrive, Bradykinesia, Stereotypical hand wringing, Limb apraxia ORPHA:778
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Cerebral palsy, Stereotypical hand wringing, Obesity, Lower limb spasticity ORPHA:163681
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Gait ataxia, Spasticity OMIM:617807
Leber Congenital Amaurosis 9
Macular scar, Eye poking OMIM:608553
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Failure to thrive, Tremor, Gait ataxia, Attention deficit hyperactivity disorder ORPHA:476126
White-Sutton Syndrome
Motor stereotypy, Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Incoordination... ORPHA:468678
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Eyelid myoclonus, Spasticity, Chorea ORPHA:178469
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Ankle flexion contracture OMIM:617802
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Gait ataxia, Hyperactivity, Spasticity OMIM:300486
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Tremor, Attention deficit hyperactivity disorder OMIM:617061
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Involuntary movements, Attention deficit hyperactivity disorder ORPHA:98784
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Head tremor OMIM:619428
Rauch-Steindl Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity OMIM:619695
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Arthrogryposis multiplex... ORPHA:496641
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Hyperactivity, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinsk... OMIM:610217
Angelman Syndrome Due To A Point Mutation
Obesity, Ataxia, Recurrent hand flapping, Tongue thrusting ORPHA:411511
Optic Atrophy-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Spasticity, Repetitive compulsive behavior ORPHA:401777
Transketolase Deficiency
Attention deficit hyperactivity disorder, Motor stereotypy, Type I diabetes mellitus ORPHA:488618
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Chorea, Hemiballismus, Athetoid cerebral palsy,... ORPHA:522077
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis OMIM:619435
Alazami Syndrome
Motor stereotypy, Stereotypical hand wringing ORPHA:319671
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Stereotypical body rocking, Tongue thrusting, Camptodactyly, Failure to thrive in ... ORPHA:261323
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Hand tremor, Small for gestational age ORPHA:424
22Q11.2 Duplication Syndrome
Motor stereotypy, Attention deficit hyperactivity disorder ORPHA:1727
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Multiple joint contractures, Hypertonia, Hyperactivity, Myoclonic spasms, Clonu... ORPHA:447997
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... OMIM:608643
Bainbridge-Ropers Syndrome
Motor stereotypy, Failure to thrive, Hypertonia, Recurrent hand flapping, Contracture of the prox... OMIM:615485
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Ataxia, Contracture of the proximal interphalangeal joint of the 4th toe, Motor ste... ORPHA:457279
Angelman Syndrome
Ataxia, Hyperactivity, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor, Obesity ORPHA:72
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Tongue thrusting ORPHA:77299
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:619103
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Phelan-Mcdermid Syndrome
Motor stereotypy, Cellulitis, Tongue thrusting OMIM:606232
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Hyperactivity, Blepharospasm, Bradykinesia, Babinski sign, Abnormal pyramidal sign, Parki... OMIM:234200
Rett Syndrome, Congenital Variant
Motor stereotypy, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia OMIM:613454
Kleefstra Syndrome
Motor stereotypy, Obesity, Hernia ORPHA:261494
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Spastic diplegia, Spasticity, Spastic tetraplegia, Oculomotor apra... ORPHA:300570
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy OMIM:616351
7Q11.23 Microduplication Syndrome
Motor stereotypy, Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Dysmetria, Obe... ORPHA:96121
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Failure to thrive, Stereotypical hand wringing OMIM:619179
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Hand tremor ORPHA:99819
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Failure to thrive, Hypertonia OMIM:212066
Autism, Susceptibility To, 3
Motor stereotypy OMIM:608049
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Failure to thrive, Flexion contracture of finger, Small for gestational age, At... ORPHA:464311
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Multiple joint contractures, Hypertonia, Severe failure to thrive, Camptodactyl... ORPHA:468631
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Punding, Limb myoclonus ORPHA:64280
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Tics, Spasticity, Hypertonia, Decreased body weight, Hyperactivity, Int... OMIM:619475
Kleefstra Syndrome 1
Motor stereotypy, Obesity OMIM:610253
Distal Xq28 Microduplication Syndrome
Attention deficit hyperactivity disorder, Stereotypical body rocking ORPHA:293939
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy ORPHA:397612
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Repetitive compulsive behavior, Neonatal hypoglycemia, Lower limb spasticity ORPHA:66634
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Multiple joint contractures, Failure to thrive, Hyperactivity, Small for gestat... ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Obesity, Motor stereotypy, Umbilical hernia OMIM:301066
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Failure to thrive, Motor stereotypy, Overweight OMIM:619575
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Decreased body weight, Attention deficit hyperactivity disorder OMIM:619005
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Failure to thrive, Hyperactivity, Arthrogryposis multiplex congenita OMIM:619512
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Myoclonus, Chorea, Enamel hypoplasia, Bilateral camptodactyly, Choreoathetosis,... OMIM:619777
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Hyperactivity, Flexion contracture, Small for gestational age, Poor coordinatio... OMIM:309590
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Failure to thrive, Ataxia, Spastic diplegia, Limb hypertonia... OMIM:619950
Wiedemann-Steiner Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity ORPHA:319182
Dpagt1-Cdg
Failure to thrive, Ataxia, Hypertonia, Flexion contracture, Stereotypical body rocking, Camptodac... ORPHA:86309
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Spasticity, Umbilical hernia OMIM:301040
Pyruvate Carboxylase Deficiency
Failure to thrive, Ataxia, Recurrent hand flapping, Abnormal pyramidal sign, Hypoglycemia, Tremor... ORPHA:3008
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Opisthotonus, Hypereosinophilia, Elbow flexion contracture ORPHA:508533
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Failure to thrive, Lower-limb joint contracture, Stereotypical body rocking, Ga... ORPHA:513456
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Poor gross motor coordination, Ataxia, Hyperactivity, Hiatus hernia, Dysmetria,... OMIM:614756
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Limb hypertonia, Spasticity ORPHA:457351
Kinsship Syndrome
Spastic tetraparesis, Failure to thrive, Myoclonus, Motor stereotypy OMIM:619297
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia OMIM:610954
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder ORPHA:177907
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Obesity, Inguinal hernia OMIM:618653
Cardiofaciocutaneous Syndrome 1
Failure to thrive, Oculomotor apraxia, Tongue thrusting, Hypertonia OMIM:115150
Bainbridge-Ropers Syndrome
Hypertonia, Recurrent hand flapping ORPHA:352577
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Spasticity, Cataplexy OMIM:607625
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting ORPHA:98795
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus OMIM:300672
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Failure to thrive, Inguinal hernia, Attention deficit hyperactivity disorder, U... ORPHA:534
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Recurrent hand flapping OMIM:156200
Mucopolysaccharidosis Type 2
Motor stereotypy, Flexion contracture of digit, Hyperactivity, Inguinal hernia, Contractures of t... ORPHA:580
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, Spas... OMIM:301030
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Inguinal hernia, Maternal diabetes, Umbilical hernia, ... OMIM:300855
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Parkinsonism, Repetitive compulsive behavior OMIM:607485
Intellectual Developmental Disorder, Autosomal Dominant 22
Stereotypical hand wringing OMIM:612337
Mgat2-Cdg
Failure to thrive, Stereotypical hand wringing ORPHA:79329
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia OMIM:617330
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, Congenital diaphragmatic hernia, Contracture of the proximal interp... OMIM:301044
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Hemiparesis, Tongue thrusting ORPHA:369950
Norrie Disease
Motor stereotypy, Failure to thrive, Hypertonia, Cachexia, Clonus, Attention deficit hyperactivit... ORPHA:649
Primrose Syndrome
Motor stereotypy, Hip contracture, Glucose intolerance, Ataxia, Flexion contracture, Truncal obes... OMIM:259050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Failure to thrive, Hyperactivity, Keloids, Obesity ORPHA:353281
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Failure to thrive, Joint contracture of the hand, Camptodactyly of finger, Enam... OMIM:309000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Ataxia, Inguinal hernia, Small for gestational age, Stereotypical hand wringing, Fail... ORPHA:268261
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Myoclonus, Rigidity, Chorea, Choreoathetosis, Involuntary movements ORPHA:217253
Tuberous Sclerosis Complex
Shagreen patch, Hyperactivity, Repetitive compulsive behavior, Attention deficit hyperactivity di... ORPHA:805
1P36 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hemiplegia/hemiparesis, Camptodactyly of finger, Obesity ORPHA:1606
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Corneal scarring, Failure to thrive, Motor stereotypy, Hyperactivity, Keloids, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Corneal scarring, Failure to thrive, Motor stereotypy, Hyperactivity, Keloids, Obesity ORPHA:353277
Arboleda-Tham Syndrome
Motor stereotypy, Lower limb hypertonia OMIM:616268
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia OMIM:616393
Coffin-Siris Syndrome 12
Motor stereotypy, Failure to thrive OMIM:619325
Wolf-Hirschhorn Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age OMIM:194190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hip contracture, Failure to thrive, Inguinal hernia, Flexion... OMIM:619503
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Exaggerated startle response, Myoclonus, Stereotypical hand wringing, Involunta... ORPHA:438213
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Motor stereotypy, Failure to thrive, Poor fine motor coordination, Flexion contracture, Camptodac... ORPHA:261537
Mowat-Wilson Syndrome
Motor stereotypy, Ataxia, Decreased body weight, Flexion contracture, Camptodactyly, Spasticity ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Motor stereotypy, Failure to thrive, Poor fine motor coordination, Flexion contracture, Camptodac... 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

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

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