Gene Summary

Name:
protein arginine N-methyltransferase 8
Synonyms:
Hrmt1l4,  Hrmt1l3

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 lens morphology Prmt8tm1a(EUCOMM)Wtsi HOM   Early adult 1.26×10-05
cataract Prmt8tm1a(EUCOMM)Wtsi HOM   Early adult 7.61×10-06

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 97 images

Human diseases caused by Prmt8 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 Prmt8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Aniridia 3
Cataract OMIM:617142
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 7
Developmental cataract OMIM:115660
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Galactosemia Iv
Cataract OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Aniridia 2
Aniridia, Cataract OMIM:617141
Cataract 47
Microcornea, Cataract OMIM:612018
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cataract 42
Developmental cataract OMIM:115900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Galactosemia Ii
Cataract OMIM:230200
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
X-Linked Retinoschisis
Cataract ORPHA:792
Cataract 43
Subcapsular cataract OMIM:616279
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Immunodeficiency 8
Hyperactivity OMIM:615401
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Nathalie Syndrome
Cataract OMIM:255990
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioratio... OMIM:605361
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Dementia, Cerebellar atrophy, Tremor by anatomical site, Cogni... ORPHA:98762
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Cataract 11, Multiple Types
Cataract OMIM:610623
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Dysequilibrium Syndrome
Cataract ORPHA:1766
Juvenile Huntington Disease
Dystonia, Dementia, Cerebellar atrophy, Bradykinesia, Hyperactivity, Progressive cerebellar ataxi... ORPHA:248111
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Ataxia OMIM:613402
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... OMIM:619191
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, A... ORPHA:98764
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Hyperactivity, Ataxia, Mental deterioration OMIM:615924
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Cognitive impairment, Tremor, Dysdiado... OMIM:617145
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Pellagra-Like Syndrome
Cataract OMIM:260650
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Cataract 24
Anterior polar cataract OMIM:601202
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Aminoacylase 1 Deficiency
Hyperactivity, Cerebellar atrophy OMIM:609924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract OMIM:604307
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Congenital Varicella Syndrome
Cataract ORPHA:291
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Cln5 Disease
Cerebellar atrophy, Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dys... ORPHA:228360
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety, Cerebellar hypoplasia ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety, Cerebellar hypoplasia OMIM:300979
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Retinitis Pigmentosa 4
Cataract OMIM:613731
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia OMIM:612716
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Retinitis Pigmentosa 2
Cataract OMIM:312600
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Retinitis Pigmentosa 37
Cataract OMIM:611131
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Retinitis Pigmentosa 9
Cataract OMIM:180104
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Tremor, Abnormal synaptic transmis... ORPHA:683
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract ORPHA:2489
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Cahmr Syndrome
Lamellar cataract OMIM:211770
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety OMIM:616977
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Tremor OMIM:618718
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Achromatopsia 3
Cataract OMIM:262300
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Hyperactivity, Happy demeanor, Broad-based gait ORPHA:411515
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Tremor, Hyperactivity, Ataxia, Gait ... ORPHA:363400
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Cerebellar hypoplasia OMIM:617302
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Martsolf Syndrome 2
Developmental cataract, Cataract OMIM:619420
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadoc... OMIM:610217
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Infantile Neuroaxonal Dystrophy
Gait disturbance, Dystonia, Cerebellar atrophy, Cerebellar gliosis, Hyperactivity, Ataxia, Emotio... ORPHA:35069
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Cerebellar atrophy, Motor deterioration, Aggressive behavior, Hyperac... ORPHA:168491
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior, Abnormal pons morphology ORPHA:85327
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619467
Adenylosuccinase Deficiency
Cerebellar atrophy, Happy demeanor, Opisthotonus, Aggressive behavior, Self-mutilation, Hyperacti... OMIM:103050
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Cerebellar atrophy ORPHA:369939
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Cerebellar vermis atrophy, Gait ataxia OMIM:300354
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Abnormal cerebellar vermis morphology OMIM:613192
Stiff Skin Syndrome
Cataract OMIM:184900
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Gomez-Lopez-Hernandez Syndrome
Agenesis of cerebellar vermis, Self-injurious behavior, Cognitive impairment, Hyperactivity, Atax... OMIM:601853
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Hyperactivity, At... ORPHA:163681
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Self-mutilation, Hyperactivity, Cerebellar ver... OMIM:300486
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Trichothiodystrophy 3, Photosensitive
Cataract OMIM:616395
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:1942
Cataract 49
Posterior cortical cataract OMIM:619593
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior ORPHA:101039
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Dystonia, Juvenile-Onset
Cataract OMIM:607371
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Hyperactivity, Attention d... ORPHA:43
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract ORPHA:363741
Gand Syndrome
Hyperactivity OMIM:615074
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Ifap Syndrome 2
Keratoconjunctivitis sicca, Cataract, Keratitis OMIM:619016
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Happy demeanor, Ataxia OMIM:614104
Myopathy With Extrapyramidal Signs
Dystonia, Cerebellar dysplasia, Tremor, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait ORPHA:98794
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... ORPHA:139396
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles ORPHA:166108
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:609625
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Mend Syndrome
Dandy-Walker malformation, Hyperactivity OMIM:300960
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
Fragile X Syndrome
Hyperactivity OMIM:300624
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dementia, Dystonia, Bradykinesia, Tremor, Hyperactivity, Ataxia, Akinesia, Ment... OMIM:234200
Argininemia
Hyperactivity, Spastic gait, Irritability, Cerebellar atrophy OMIM:207800
Citrullinemia Type Ii
Aggressive behavior, Tremor, Hyperactivity, Irritability, Memory impairment, Lethargy ORPHA:247585
47,Xyy Syndrome
Cerebellar dysplasia, Hyperactivity, Attention deficit hyperactivity disorder, Dysgenesis of the ... ORPHA:8
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Tremor, Hyperactivity, Inability to... ORPHA:72
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Angelman Syndrome
Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait OMIM:105830
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Keratitis, Cataract, Corneal neovascularization, Conjunctivitis OMIM:278730
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:614756
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Irritability, Tremor ORPHA:525731
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Self-mutilation, Low frustration tolerance ORPHA:363686
Joubert Syndrome 1
Dysgenesis of the cerebellar vermis, Agenesis of cerebellar vermis, Aggressive behavior, Self-mut... OMIM:213300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
X-Linked Intellectual Disability, Cabezas Type
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Microcornea, Cataract OMIM:608279
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
Leiomyomatosis, Diffuse, With Alport Syndrome
Lenticonus, Cataract, Anterior lenticonus OMIM:308940
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Hyperactivity, Aggressive behavior, Shuffling gait, Low frustration tolerance OMIM:300534
Legius Syndrome
Dystonia, Cognitive impairment, Hyperactivity, Chiari type I malformation, Attention deficit hype... ORPHA:137605
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
White-Sutton Syndrome
Cerebellar atrophy, Self-injurious behavior, Hypoplasia of the pons, Aggressive behavior, Hyperac... ORPHA:468678
Hyperlysinemia
Opisthotonus, Dysmetria, Tremor, Hyperactivity, Tip-toe gait ORPHA:2203
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Posterior corti... ORPHA:67036
Brain-Lung-Thyroid Syndrome
Dystonia, Falls, Intention tremor, Hyperactivity, Ataxia ORPHA:209905
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Histidinemia
Hyperactivity ORPHA:2157
Early Infantile Epileptic Encephalopathy
Dystonia, Cerebellar atrophy, Self-injurious behavior, Tremor, Hyperactivity, Episodic ataxia ORPHA:1934
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Mucopolysaccharidosis Type 3
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Progressive neurologic deter... ORPHA:581
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Hypoplasia of the pons, Hyperactivity, Cerebellar hypoplasia, Abnormal d... OMIM:619512
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety ORPHA:319182
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Head titubation, Torticollis, Suicidal ideation, Cognitive impairment... OMIM:619475
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Mend Syndrome
Dandy-Walker malformation, Hyperactivity, Aggressive behavior ORPHA:401973
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Chiari malformation, Agoraphobia, Self-injurious behavior... ORPHA:353281
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Attention deficit hyperacti... ORPHA:805
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Olivopontocerebellar hypoplasia ORPHA:457284
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Difficulty walking, Abnormal emotion/affect behavior, Nail-biting ORPHA:642
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Cerebellar cortical atrophy ORPHA:48652

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 Prmt8

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 Prmt8.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Protein arginine methyltransferase 8 modulates mitochondrial bioenergetics and neuroinflammation after hypoxic stress. Journal of neurochemistry (August 2021) Prmt8tm1a(EUCOMM)Wtsi 34216036
The Protein Arginine Methyltransferase PRMT8 and Substrate G3BP1 Control Rac1-PAK1 Signaling and Actin Cytoskeleton for Dendritic Spine Maturation. Cell reports (June 2020) Prmt8tm1a(EUCOMM)Wtsi 32521269
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)