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Gene: Taok1 MGI:1914490

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Gene Summary

Name:
TAO kinase 1
Synonyms:
D130018F14Rik,  2810468K05Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 skin morphology Taok1em1(IMPC)Tcp HET Early adult 0.00
abnormal lens morphology Taok1em1(IMPC)Tcp HET Early adult 1.48×10-05
cataract Taok1em1(IMPC)Tcp HET Early adult 2.55×10-05
preweaning lethality, complete penetrance Taok1em1(IMPC)Tcp HOM   Early adult 0.00
abnormal retina vasculature morphology Taok1em1(IMPC)Tcp HET Early adult 8.67×10-06
abnormal retina blood vessel morphology Taok1em1(IMPC)Tcp HET Early adult 1.14×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

98 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Human diseases caused by Taok1 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.

The table below shows human diseases associated to Taok1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Failure to thrive, Lateral ventricle dilatation, Frequent ... OMIM:619575

The table below shows human diseases predicted to be associated to Taok1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Intellectual Developmental Disorder, Autosomal Recessive 37
Spasticity, Generalized hypotonia, Bruxism, Hypotonia, Microcephaly, Aggressive behavior, Hyperac... OMIM:615493
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Motor stereotypy, Reduced social reciprocity, Generalized hypotonia OMIM:606053
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cataract 42
Cataract, Developmental cataract OMIM:115900
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Bruxism, Large for gestational age, Hypotonia, Aggressive behavior, Hyperactivity ORPHA:356996
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608631
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... OMIM:608636
Trichomegaly
Cataract OMIM:190330
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Nathalie Syndrome
Cataract ORPHA:2663
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:209850
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Hypotonia, Irritability, Microcephaly, Progressive microcephaly, Hyperactivity, Spast... OMIM:616657
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Developmental And Epileptic Encephalopathy 107
Hypotonia, Appendicular hypotonia, Microcephaly, Progressive microcephaly, Motor stereotypy, Axia... OMIM:620033
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hypotonia, Hyperactivity DECIPHER:20
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Hypotonia, Emotional lability, Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hypotonia, Abnormality of neuronal migration, Microcephaly, Attention deficit hyperactivity disor... OMIM:618709
Smith-Magenis syndrome
Hypotonia, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Spasticity, Hypotonia, Reduced social reciprocity, Dystonia, Motor stere... OMIM:617820
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
N-Acetylaspartate Deficiency
Generalized hypotonia, Secondary microcephaly, Self-mutilation, Decreased body weight, Microcepha... OMIM:614063
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypotonia, Recurrent hand flapping, Progressive microcephaly, Dysphagia, Atrophy/Degeneration aff... OMIM:617862
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Microcephaly, Aggressive behavior, Dystonia, Motor stereotypy, A... OMIM:619150
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Galactosemia Ii
Cataract OMIM:230200
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Hypotonia, Attention deficit hyperactivity disorder, Overwei... OMIM:620065
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Generalized hypotonia, Failure to thri... OMIM:613670
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Galactosemia Iv
Cataract OMIM:618881
Foxg1 Syndrome
Spasticity, Bruxism, Hypotonia, Reduced social reciprocity, Stereotypical hand wringing, Decrease... ORPHA:561854
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hypotonia, Aggressive behavior, Microcephaly, Hyperactivity, Spastic tetraparesis, Motor stereoty... OMIM:619470
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Microcephaly, Seizures, And Developmental Delay
Hypotonia, Microcephaly, Progressive microcephaly, Hyperactivity, Simplified gyral pattern OMIM:613402
Glycine Encephalopathy 1
Generalized hypotonia, Hypotonia, Agenesis of corpus callosum, Irritability, Aggressive behavior,... OMIM:605899
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Polymicrogyria, Secondary microcephaly, Microcephaly, Hypertonia, Motor ... OMIM:615282
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Lissencephaly, Failure to thrive, Polymicrogyria, Self-mutilation, Abnormality of neuronal migrat... OMIM:604317
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Lateral ventricle dilatation, Hypoplasia of the pons, Polymicrogyria, A... ORPHA:300573
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Spastic diplegia, Motor stereotypy, Generalized hypotonia OMIM:617830
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Failure to thrive, Secondary microcephaly, Hypotonia, Irritability, Motor stereotypy OMIM:617393
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Axial hypotonia, Spastic di... OMIM:617270
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Microcephaly... OMIM:309548
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Hyperprolinemia, Type I
Generalized hypotonia, Hypotonia, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:239500
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Spastic dysarthria, Progressive spastic paraplegia, Hypotonia, Microcephaly, Excessiv... ORPHA:280763
Cataract 47
Cataract, Microcornea OMIM:612018
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod... OMIM:612572
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... OMIM:617304
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Nathalie Syndrome
Cataract OMIM:255990
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Spasticity, Bruxism, Motor stereotypy, Microcephaly, Hyperactivity, Infa... OMIM:618718
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... OMIM:618173
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Ravine Syndrome
Spasticity, Failure to thrive, Abnormal brainstem morphology, Decreased body weight, Atrophy/Dege... ORPHA:99852
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Pick Disease Of Brain
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Emotional blunting, Motor stereo... OMIM:172700
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Aggressive behavior, Microcephaly, Hyperactivity, Motor stereotypy, Small for ... OMIM:609425
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... OMIM:180105
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Spasticity, Hypoplasia of the pons, Generalized hypotonia, Decreased bod... OMIM:617695
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hypotonia, Agenesis of corpus callosum, Microcephaly, Hyperactivity, Hypertonia OMIM:274270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor OMIM:616171
Pontocerebellar Hypoplasia Type 10
Spasticity, Generalized hypotonia, Abnormal brainstem morphology, Irritability, Hypertonia, Simpl... ORPHA:411493
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos... OMIM:310600
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Dysphagia, Motor st... OMIM:612069
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Limb dystonia, Craniofacial dystonia, Torticollis, Focal ... ORPHA:98807
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Irritability, Aggressive behavior, C... ORPHA:275864
Ck Syndrome
Generalized hypotonia, Polymicrogyria, Slender build, Irritability, Aggressive behavior, Microcep... ORPHA:251383
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy OMIM:613763
Intellectual Developmental Disorder, Autosomal Dominant 7
Generalized hypotonia, Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand w... OMIM:614104
Proximal Myotonic Myopathy
Cataract ORPHA:606
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Rigidity, Aggressive behavior, Dystonia, Restlessness, Mot... OMIM:600795
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel... ORPHA:39044
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Generalized hypotonia, Microcephaly, Attention deficit hyperactivity disorder, Repeti... ORPHA:352490
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon... OMIM:613810
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Lennox-Gastaut Syndrome
Aggressive behavior, Abnormal brainstem morphology, Hyperactivity, Irritability ORPHA:2382
Ck Syndrome
Generalized hypotonia, Polymicrogyria, Slender build, Irritability, Aggressive behavior, Microcep... OMIM:300831
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Failure to thrive, Abnormal brainstem morphology, Agenesis of corpus callosum, Microcephaly, Axia... ORPHA:255182
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos... OMIM:604229
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Pachygyria, Aggressive behavior, Attention defic... OMIM:619827
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Spasticity, Failure to thrive, Hypotonia, Agenesis of corpus callosum, Aggressive behavior, Micro... OMIM:615286
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Xq28 (MECP2) duplication
Depression, Neonatal hypotonia, Failure to thrive, Microcephaly, Dysphagia, Progressive spasticit... DECIPHER:45
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy, Hypotonia OMIM:613886
Autosomal Recessive Stickler Syndrome
Astigmatism, Cataract, Retinal detachment, Vitreoretinopathy ORPHA:250984
Tubulinopathy-Associated Dysgyria
Hypoplasia of the pons, Abnormal brainstem morphology, Hypotonia, Dysgyria, Microcephaly, Attenti... ORPHA:467166
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Failure to thrive, Secondary microcephaly, Hypotonia, Aggressive behavior, Attention ... OMIM:620242
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hypotonia, Delayed early-childhood social milestone development, Hyperactivity, Rigidity OMIM:618090
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy, Neonatal hypotonia OMIM:619690
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... OMIM:613983
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Cessation of head growth, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Infantile m... ORPHA:411515
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Hypotonia, Recurrent hand flapping... ORPHA:449291
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hypotonia, Polyphagia, Motor stereotypy, Microcephaly, Hyperactivity, Pa... ORPHA:228402
Juvenile Huntington Disease
Depression, Oral motor hypotonia, Rigidity, Irritability, Weight loss, Hyperactivity, Dystonia ORPHA:248111
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Generalized hypotonia, Bruxism, Decreased body weight, Aggressive behavior, Attention deficit hyp... OMIM:618342
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Developmental And Epileptic Encephalopathy 109
Spasticity, Failure to thrive, Hypotonia, Primary microcephaly, Hyperactivity, Axial hypotonia OMIM:620145
Christianson Syndrome
Inappropriate laughter, Microcephaly, Cachexia, Dysphagia, Dystonia, Motor stereotypy ORPHA:85278
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Hypotonia, Microcephaly, Hyperactivity, Motor stereotypy, Abnormal soci... ORPHA:530983
Lopes-Maciel-Rodan Syndrome
Spasticity, Bruxism, Axial hypotonia, Dysphagia, Hypertonia, Dystonia, Motor stereotypy, Agitation OMIM:617435
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... OMIM:608049
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Microcephaly, Attention deficit hyperactivity disorder, Motor stereotypy, Generalized hypotonia OMIM:618906
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Depression, Hostility, Bruxism, Hypotonia, Decreased body weight, Rigidity, Microcephaly, Repetit... OMIM:300260
Cataract 48
Cataract OMIM:618415
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Congenital Varicella Syndrome
Cataract ORPHA:291
Aniridia 3
Cataract, Aniridia OMIM:617142
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Generalized hypotonia, Hypotonia, Recurrent hand flapping, Emotional lability, Axial hypotonia, A... OMIM:619580
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... ORPHA:101039
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Spasticity, Oculogyric crisis, Lateral ventricle dilatation, Oral-pharyn... ORPHA:208447
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Stereotypical hand wringing, Progressive microcephaly, Compu... OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Microcephaly, Motor stereotypy, Hyperactivity OMIM:615541
Baker-Gordon Syndrome
Self-injurious behavior, Dystonia, Motor stereotypy, Neonatal hypotonia OMIM:618218
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Pitt-Hopkins-Like Syndrome 1
Spasticity, Generalized hypotonia, Reduced social reciprocity, Aggressive behavior, Attention def... OMIM:610042
Intellectual Developmental Disorder, Autosomal Dominant 48
Lateral ventricle dilatation, Polymicrogyria, Hypoplasia of the brainstem, Hypotonia, Microcephal... OMIM:617751
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:90653
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Cerebral Creatine Deficiency Syndrome 1
Spasticity, Failure to thrive, Neonatal hypotonia, Hypotonia, Reduced social reciprocity, Aggress... OMIM:300352
Rett Syndrome, Congenital Variant
Spasticity, Neonatal hypotonia, Generalized hypotonia, Bruxism, Reduced social reciprocity, Irrit... OMIM:613454
Intellectual Developmental Disorder, Autosomal Recessive 38
Neonatal hypotonia, Generalized hypotonia, Recurrent hand flapping, Self-mutilation, Aggressive b... OMIM:615516
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Microcephaly, Attention deficit hyperactivity disorder, Hyperactivity, Hypotonia OMIM:617182
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Lower limb spasticity... ORPHA:3077
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Hypotonia, Self-mutilation, Microcephaly, Overweight, Motor stereotypy, Upper limb sp... ORPHA:457240
Galloway-Mowat Syndrome 6
Microcephaly, Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight OMIM:618347
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Generalized hypotonia, Microcephaly, Hyperactivity,... OMIM:610883
Intellectual Developmental Disorder, X-Linked 98
Failure to thrive, Bulimia, Secondary microcephaly, Bruxism, Stereotypical body rocking, Hypotoni... OMIM:300912
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Shukla-Vernon Syndrome
Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impul... OMIM:301029
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Obesity, Hypotonia, Low frustration tolerance, Self-mutilation, Stereot... ORPHA:163681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Nance-Horan Syndrome
Cataract, Microcornea, Retinal detachment ORPHA:627
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Failure to thrive, Neonatal hypotonia, Inappropriate laughter, Hypotonia, Agenesis of... OMIM:615802
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypotonia, Obsessive-compulsive trait, Irritability, Microcephaly, Hyperactivity, Pica, Overweigh... OMIM:617796
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Infantile axial ... ORPHA:300570
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor st... OMIM:620292
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Microcep... OMIM:620141
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Spasticity, Hypoplasia of the brainstem, Hypotonia, Microcephaly, Facial hypotonia, Dystonia, Mot... OMIM:617807
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hypotonia, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hype... OMIM:617600
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Hypotonia, Attention deficit hyperactivity disorder, Compulsive behavior... OMIM:617044
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Dentici-Novelli Neurodevelopmental Syndrome
Microcephaly, Hypertonia, Motor stereotypy, Axial hypotonia, Simplified gyral pattern OMIM:619877
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Failure to thrive, Stereotypical body rocking, Hypotonia, Tongue thrusting, Progressive microceph... OMIM:617865
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Emotional lability, Microcephaly, Infantile muscular hypotonia, Motor stereoty... ORPHA:927
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Failure to thrive, Secondary microcephaly, Hypotonia, Recurrent hand fla... OMIM:300986
Smith-Magenis Syndrome
Head-banging, Generalized hypotonia, Onychotillomania, Self-mutilation, Increased body weight, Hy... OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Hypotonia, Motor stereotypy OMIM:615637
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Childhood Disintegrative Disorder
Abnormal emotion, Motor stereotypy, Reduced social reciprocity ORPHA:168782
Cri-Du-Chat Syndrome
Neonatal hypotonia, Oppositional defiant disorder, Self-mutilation, Overfriendliness, Aggressive ... OMIM:123450
Developmental And Epileptic Encephalopathy 6B
Hypotonia, Dystonia, Motor stereotypy, Axial hypotonia OMIM:619317
Houge-Janssens Syndrome 3
Self-injurious behavior, Hypoplasia of the brainstem, Hypotonia, Microcephaly, Attention deficit ... OMIM:618354
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy ORPHA:139471
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Inverted Duplicated Chromosome 15 Syndrome
Generalized hypotonia, Aggressive behavior, Microcephaly, Hyperactivity, Self-biting, Motor stere... ORPHA:3306
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Hypotonia, Motor stereotypy, Lateral ventricle dilatation OMIM:613443
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypotonia, Motor stereotypy, Hypoplasia of the pons ORPHA:411986
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Microcephaly, Motor stereotypy, Hypertonia, Generalized hypotonia OMIM:619092
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
47,Xyy Syndrome
Neonatal hypotonia, Abnormal brainstem morphology, Reduced social reciprocity, Attention deficit ... ORPHA:8
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Hypotonia, Paroxysmal dystonia, Microcephaly, Limb hypertonia, ... OMIM:618004
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Spasticity, Obesity, Hypotonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor s... OMIM:618430
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder... ORPHA:313892
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypoplasia of the pons, Hypotonia, Low frustration tolerance, Overfriendliness, Attention deficit... OMIM:619293
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Polymicrogyria, Microcephaly, Infantile muscular hypotonia, Motor st... ORPHA:500159
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Cessation of head growth, Secondary microcephaly, Inappropriate laughter, Abnormal eating behavio... ORPHA:98794
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Secondary microcephaly, Hypotonia, Hair-pulling, Irritability, Lower limb spasticity, Dysphagia, ... ORPHA:447997
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Microcephaly, Hyperactivity, Motor stereotypy ORPHA:391307
Joubert Syndrome 6
Hypoplasia of the brainstem, Hypotonia, Elongated superior cerebellar peduncle, Thickened superio... OMIM:610688
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Radio-Tartaglia Syndrome
Obesity, Hypotonia, Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperacti... OMIM:619312
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Hypotonia, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
Rett Syndrome
Failure to thrive, Abnormal muscle tone, Bruxism, Stereotypical hand wringing, Progressive microc... ORPHA:778
Adenylosuccinase Deficiency
Spasticity, Generalized hypotonia, Inappropriate laughter, Hypotonia, Self-mutilation, Aggressive... OMIM:103050
48,Xxyy Syndrome
Depression, Hypotonia, Obesity, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:10
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Hypotonia, Agenesis of corpus callosum, Compulsive behaviors, Motor ster... OMIM:613174
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Lateral ventricle dilatation, Generalized hypotonia, Aggressive behavior... OMIM:618914
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Motor stereotypy, Generalized hypotonia OMIM:617808
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Hypotonia, Overfriendliness, Microcephaly, Facial hypotonia, Motor stereotypy OMIM:616579
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Neonatal hypotonia ORPHA:85277
4Q21 Microdeletion Syndrome
Self-injurious behavior, Hypotonia, Motor stereotypy, Agenesis of corpus callosum ORPHA:238750
White-Sutton Syndrome
Self-injurious behavior, Failure to thrive, Generalized hypotonia, Obesity, Hypotonia, Overfriend... OMIM:616364
Hijazi-Reis Syndrome
Hypotonia, Lower limb spasticity, Motor stereotypy OMIM:301094
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Microcephaly, Scissor gait, Spasti... OMIM:619121
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Cogwheel rigidity, Microcephaly, Attention deficit hyperactivity disorder, Motor tics, Dystonia, ... OMIM:619725
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Abnormal brainstem morphology, Hyp... ORPHA:370959
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Spasticity, Dysphagia, Pachygyria, Motor stereotypy, Axial hypotonia ORPHA:572013
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Generalized hypotonia, Hypotonia, Microcephaly, Progressive microcephaly, Dysphagia, Motor stereo... OMIM:617802
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corpus callosum, Microce... OMIM:619103
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... OMIM:618825
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Generalized neonatal hypotonia, Bruxism, Hair-pulling, Aggressive behavi... OMIM:616393
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
5Q14.3 Microdeletion Syndrome
Hypotonia, Motor stereotypy ORPHA:228384
Den Hoed-De Boer-Voisin Syndrome
Spasticity, Lateral ventricle dilatation, Secondary microcephaly, Obesity, Hypotonia, Axial hypot... OMIM:619229
Coffin-Siris Syndrome 7
Hypotonia, Hyperactivity, Compulsive behaviors, Severe temper tantrums, Motor stereotypy OMIM:618027
Choreoacanthocytosis
Lateral ventricle dilatation, Limb dystonia, Emotional lability, Hair-pulling, Weight loss, Lingu... ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 34
Secondary microcephaly, Bruxism, Motor stereotypy, Axial hypotonia OMIM:616351
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Reduced social reciprocity, Attention deficit hyperactivity disorder,... ORPHA:261197
Chromosome 15Q11.2 Deletion Syndrome
Generalized hypotonia, Hypotonia, Reduced social reciprocity, Attention deficit hyperactivity dis... OMIM:615656
Microphthalmia, Syndromic 5
Cataract, Microcornea, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Self-injurious behavior, Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder... OMIM:617061
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Spasticity, Generalized hypotonia, Low frustration tolerance, Self-mutilation, Hyperactivity, Mot... OMIM:300486
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Depression, Dysphagia, Emotional lability ORPHA:79264
X-Linked Creatine Transporter Deficiency
Hypotonia, Self-mutilation, Microcephaly, Cachexia, Hyperactivity, Hypertonia, Dystonia ORPHA:52503
Spinocerebellar Ataxia Type 1
Generalized hypotonia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainste... ORPHA:98755
Developmental And Epileptic Encephalopathy 66
Hypotonia, Motor stereotypy OMIM:618067
22Q11.2 Duplication Syndrome
Hypotonia, Microcephaly, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... ORPHA:1727
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Rauch-Steindl Syndrome
Failure to thrive, Hypotonia, Aggressive behavior, Microcephaly, Hyperactivity, Motor stereotypy OMIM:619695
Ritscher-Schinzel Syndrome 4
Hypotonia, Agenesis of corpus callosum, Aggressive behavior, Dysphagia, Motor stereotypy, Impulsi... OMIM:619435
Smith-Magenis Syndrome
Self-injurious behavior, Failure to thrive in infancy, Obesity, Hypotonia, Microcephaly, Attentio... ORPHA:819
Amyloidosis, Finnish Type
Cataract, Optic neuropathy, Lattice corneal dystrophy OMIM:105120
Late Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Obsessive-compulsive trait, Low frustration tolerance, Aggressive behavior, Hyperacti... ORPHA:168491
Foxg1 Syndrome Due To 14Q12 Microdeletion
Microcephaly, Hypotonia, Motor stereotypy, Agenesis of corpus callosum ORPHA:261144
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Dysphagia, Infantile muscular hypotonia ORPHA:163961
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Neonatal hypotonia, Obesity... ORPHA:177907
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Abnormal brainstem morphology, Hypotonia ORPHA:370022
Snijders Blok-Campeau Syndrome
Hypotonia, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618205
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Paroxysmal dystonia ORPHA:98784
Kleefstra Syndrome 1
Generalized hypotonia, Obesity, Hypotonia, Aggressive behavior, Microcephaly, Compulsive behavior... OMIM:610253
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Microcephaly, Hypotonia, Motor stereotypy OMIM:619428
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Spasticity, Hypoplasia of the pons, Polymicrogyria, Infantile axial hypo... ORPHA:468631
White-Sutton Syndrome
Self-injurious behavior, Hypoplasia of the pons, Obesity, Facial hypotonia, Aggressive behavior, ... ORPHA:468678
Phelan-Mcdermid Syndrome
Neonatal hypotonia, Generalized hypotonia, Bruxism, Reduced social reciprocity, Microcephaly, Agg... OMIM:606232
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Failure to thrive, Hypoplasia of the pons, Frequent temper tantrums, Hyp... OMIM:619512
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Lateral ventricle dilatation, Neonatal hypotonia, Generalized hypotonia... ORPHA:457279
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Hypotonia, Motor stereotypy ORPHA:397612
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypotonia, Spasticity, Abnormal brainstem morphology ORPHA:79279
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Generalized hypotonia ORPHA:529965
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Failure to thrive, Lateral ventricle dilatation, Frequent ... OMIM:619575
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Spasticity, Neonatal hypotonia, Limb dystonia, Microcephaly, Limb hypert... ORPHA:457351
2Q37 Microdeletion Syndrome
Obesity, Hypotonia, Microcephaly, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:1001
Alazami Syndrome
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing ORPHA:319671
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Generalized hypotonia, Self-mutilation, Stereotypical hand wringing, Aggressiv... OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Secondary microcephaly, Attention deficit hyperactivity disorder, Motor stereotypy, Agenesis of c... OMIM:620073
Pilarowski-Bjornsson Syndrome
Hypotonia, Motor stereotypy OMIM:617682
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Failure to thrive, Hypotonia, Aggressive behavior, Attention deficit hyp... OMIM:620494
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho... ORPHA:1571
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Polymicrogyria, Abnormal brainstem morphology, Infantile muscular hypotonia, Abnormal pons morpho... ORPHA:370997
Bainbridge-Ropers Syndrome
Self-injurious behavior, Failure to thrive, Lateral ventricle dilatation, Generalized hypotonia, ... OMIM:615485
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Secondary microcephaly, Self-mutilation, Aggressive behavior, Attention defici... ORPHA:476126
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ... OMIM:101000
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618504
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Emotional lability, Decreased body weight, Progressive spastic quadriplegia, Torticol... OMIM:619475
Kleefstra Syndrome
Self-injurious behavior, Obesity, Hypotonia, Self-mutilation, Agenesis of corpus callosum, Aggres... ORPHA:261494
Familial Acute Necrotizing Encephalopathy
Spasticity, Abnormal brainstem morphology, Rigidity, Hypertonia, Spastic tetraplegia, Abnormal br... ORPHA:88619
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... ORPHA:247691
Wiedemann-Steiner Syndrome
Failure to thrive, Hypotonia, Low frustration tolerance, Aggressive behavior, Microcephaly, Dysph... ORPHA:319182
Transketolase Deficiency
Self-injurious behavior, Hypotonia, Attention deficit hyperactivity disorder, Compulsive behavior... ORPHA:488618
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Generalized hypotonia, Obesity, Reduced social reciprocity, Aggressive b... ORPHA:96121
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Spasticity, Secondary microcephaly, Primary microcephaly, Dysphagia, Infantile muscular hypotonia... ORPHA:496641
Van Esch-O'Driscoll Syndrome
Spasticity, Hypotonia, Microcephaly, Attention deficit hyperactivity disorder, Excessive shyness,... OMIM:301030
3P25.3 Microdeletion Syndrome
Hypotonia, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:435638
Cystinosis
Polydipsia, Motor stereotypy, Failure to thrive ORPHA:213
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Lateral ventricle dilatation, Bruxism, Obesity, Hypotonia, Reduced social reci... OMIM:615873
Developmental And Epileptic Encephalopathy 2
Hypotonia, Progressive microcephaly, Motor stereotypy, Generalized hypotonia OMIM:300672
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hypotonia, Emotional lability, Hair-pulling, Polyphag... OMIM:620330
Monosomy 22Q13.3
Neonatal hypotonia, Bruxism, Obesity, Agenesis of corpus callosum, Hair-pulling, Hyperactivity ORPHA:48652
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Cataract, Cerulean cataract, Anterior cortical cat... ORPHA:67036
Semilobar Holoprosencephaly
Spasticity, Depression, Failure to thrive, Infantile axial hypotonia, Abnormal brainstem morpholo... ORPHA:220386
Alobar Holoprosencephaly
Spasticity, Depression, Failure to thrive, Infantile axial hypotonia, Abnormal brainstem morpholo... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Spasticity, Depression, Failure to thrive, Infantile axial hypotonia, Abnormal brainstem morpholo... ORPHA:93926
Lobar Holoprosencephaly
Spasticity, Depression, Failure to thrive, Infantile axial hypotonia, Abnormal brainstem morpholo... ORPHA:93924
Megalocornea-Intellectual Disability Syndrome
Microcephaly, Hypotonia, Motor stereotypy ORPHA:2479
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Abnormal brainstem morphology, Abnormality of neuronal migration, Microcephaly... ORPHA:464311
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal hypotonia, Self-mutilation, Decreased body weight, Attention deficit hyperactivity disor... OMIM:619005
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Depression, Hypotonia, Weight loss, Abnormal brainstem morphology OMIM:301310
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Depression, Aggressive behavior, Microcephaly, Hyperactivity, Dyst... OMIM:612716
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Secondary microcephal... ORPHA:353281
Kinsship Syndrome
Failure to thrive, Bruxism, Hypotonia, Microcephaly, Primary microcephaly, Spastic tetraparesis, ... OMIM:619297
Pitt-Hopkins Syndrome
Self-injurious behavior, Secondary microcephaly, Hypotonia, Microcephaly, Motor stereotypy OMIM:610954
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized hypotonia, Infantile axial hypotonia, Hypotonia, Microcephaly, Opisthotonus, Hyperton... ORPHA:508533
Niemann-Pick Disease, Type C2
Spasticity, Hypotonia, Dysphagia, Dystonia, Motor stereotypy OMIM:607625
Developmental And Epileptic Encephalopathy 100
Polymicrogyria, Hypotonia, Appendicular hypotonia, Dysphagia, Pachygyria, Motor stereotypy, Axial... OMIM:619777
Fragile X-Associated Tremor/Ataxia Syndrome
Depression, Abnormal brainstem morphology, Rigidity, Compulsive behaviors, Dysphagia ORPHA:93256
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Hypoplasia of the brainstem, Microcephaly, Primary microcephaly, Hyperactivity... ORPHA:464306
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Hypotonia, Microcephaly, Infantile muscular hypotonia, Motor stereotypy OMIM:301040
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Infantile muscular hypotonia, Self-biting, Dysto... ORPHA:522077
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Hypotonia, Microcephaly, Motor stereotypy, Axial hypotonia OMIM:618653
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Stereotypical body rocking, Hypotonia, Microcephaly, Repetitive compulsive beh... ORPHA:513456
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Secondary microcephal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Secondary microcephal... ORPHA:353277
Gangliocytoma
Polyphagia, Abnormal brainstem morphology ORPHA:251937
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Obesity, Motor stereotypy, Hypotonia OMIM:301066
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Hypotonia, Ataxia, And Delayed Development Syndrome
Generalized hypotonia, Microcephaly, Dysphagia, Infantile muscular hypotonia, Motor stereotypy, A... OMIM:617330
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Generalized hypotonia, Microcephaly, Hyperactivity, Motor stereotypy, Small for gestational age, ... OMIM:309590
Arboleda-Tham Syndrome
Neonatal hypotonia, Generalized hypotonia, Hypotonia, Microcephaly, Primary microcephaly, Dysphag... OMIM:616268
Nmda Receptor Encephalitis
Mania, Oculogyric crisis, Depression, Rigidity, Opisthotonus, Dystonia, Motor stereotypy, Agitati... ORPHA:217253
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Hypertonia ORPHA:2720
Cornelia De Lange Syndrome 6
Compulsive behaviors, Microcephaly, Hair-pulling OMIM:620568
1P36 Deletion Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Hypotonia, Agenesis of corpus callosum, Poly... ORPHA:1606
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Failure to thrive, Neonatal hypotonia, Attention deficit hyp... ORPHA:534
Norrie Disease
Self-injurious behavior, Failure to thrive, Hypotonia, Irritability, Microcephaly, Attention defi... ORPHA:649
Ogden Syndrome
Hypotonia, Irritability, Microcephaly, Dysphagia, Torticollis, Hypertonia, Motor stereotypy OMIM:300855
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Generalized hypotonia, Microcephaly, Hypertonia, Spastic tetraparesis, Motor stereotypy, Axial hy... OMIM:301044
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Moto... ORPHA:580
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microcephaly, Motor stereotypy, Agenesis of corpus callosum ORPHA:508498
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Hypotonia, Microcephaly, Truncal obesity, Motor stere... OMIM:612474
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Neonatal hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity,... OMIM:614756
Wolf-Hirschhorn Syndrome
Failure to thrive, Generalized hypotonia, Agenesis of corpus callosum, Microcephaly, Motor stereo... OMIM:194190
Lowe Oculocerebrorenal Syndrome
Neonatal hypotonia, Failure to thrive, Hypotonia, Aggressive behavior, Motor stereotypy OMIM:309000
Coffin-Siris Syndrome 12
Failure to thrive, Oral motor hypotonia, Hypotonia, Microcephaly, Motor stereotypy OMIM:619325
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Hypotonia, Motor stereotypy OMIM:616682
Mowat-Wilson Syndrome
Spasticity, Polymicrogyria, Bruxism, Hypotonia, Periventricular heterotopia, Reduced social recip... ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypotonia, Microcephaly, Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy OMIM:619522
Primrose Syndrome
Self-injurious behavior, Hypotonia, Aggressive behavior, Attention deficit hyperactivity disorder... OMIM:259050
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Spasticity, Failure to thrive, Lateral ventricle dilatation, Polymicrogyria, Secondary microcepha... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Spasticity, Failure to thrive, Lateral ventricle dilatation, Polymicrogyria, Secondary microcepha... 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 Taok1

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 Taok1.

No publications found that use IMPC mice or data for Taok1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Taok1em1(IMPC)Tcp Exon Deletion Mice
Taok1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Taok1tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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