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Gene: Zswim6 MGI:1914513

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Gene Summary

Name:
zinc finger SWIM-type containing 6
Synonyms:
2900036G02Rik

Order Alleles

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
persistence of hyaloid vascular system Zswim6em1(IMPC)J HET Early adult 8.12×10-05
preweaning lethality, incomplete penetrance Zswim6em1(IMPC)J HOM   Early adult 0.00
increased aggression Zswim6em1(IMPC)J HET Early adult 6.40×10-05
cataract Zswim6em1(IMPC)J HET Early adult 7.12×10-05
increased mean corpuscular hemoglobin Zswim6em1(IMPC)J HET Early adult 5.34×10-05

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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.

X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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 Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Zswim6 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 Zswim6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Acromelic Frontonasal Dysplasia
Agenesis of corpus callosum ORPHA:1827

The table below shows human diseases predicted to be associated to Zswim6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... OMIM:614063
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cataract 42
Cataract, Developmental cataract OMIM:115900
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior OMIM:617171
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... OMIM:605899
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... OMIM:619150
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Trichomegaly
Cataract OMIM:190330
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Nathalie Syndrome
Cataract ORPHA:2663
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Obesity, Aggressive behavior OMIM:620270
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... OMIM:172700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Agenesis of co... OMIM:617695
Stxbp1-Related Encephalopathy
Inability to walk, Hyperactivity, Dysplastic corpus callosum, Ataxia ORPHA:599373
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive ... OMIM:612069
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Failure to thrive, Agenesis of corpus callosum OMIM:274270
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Progressive cerebellar ... ORPHA:248111
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... ORPHA:275864
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Foxg1 Syndrome
Inability to walk, Choreoathetosis, Agenesis of corpus callosum, Difficulty walking, Bruxism, Dec... ORPHA:561854
Galactosemia Iv
Cataract OMIM:618881
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis ORPHA:382
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior OMIM:300983
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Galactosemia Ii
Cataract OMIM:230200
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Failure to thrive, Agenesis of corpus callosum, Aggressive behavior OMIM:615286
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,... OMIM:614104
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... OMIM:618917
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Failure to thrive, Aggressive behavior OMIM:618362
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Abnor... OMIM:600795
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Retinal pigment epithelial atrophy, Optic atrophy, Cata... OMIM:143200
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Failure to thrive, Self-mutilation OMIM:604317
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... OMIM:617600
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... OMIM:261600
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Dysphagia, Failure to thrive, Abnormal repetitive man... DECIPHER:45
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Failure to thrive, Crouch gait, Gait ataxia OMIM:620145
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... ORPHA:500180
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, Steppage gait, Attentio... ORPHA:98818
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Cataract 47
Microcornea, Cataract OMIM:612018
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... ORPHA:352490
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy, Cataract OMIM:613731
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... OMIM:620242
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Christianson Syndrome
Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive man... ORPHA:85278
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia ORPHA:848
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi... OMIM:600430
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Usher Syndrome Type 3
Cataract, Iris hypopigmentation, Astigmatism, Depression ORPHA:231183
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Decreased ... OMIM:618342
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Ataxia, Aggressive behavior OMIM:271980
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Overweight, Abnormal repetitive mannerisms, Difficulty walking ORPHA:280763
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Lateral ventricle dilatation, Abnormal repetitive mannerisms OMIM:613443
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... OMIM:182290
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Cone-Rod Dystrophy 16
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:614500
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms OMIM:619317
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... OMIM:212550
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... OMIM:619580
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib... OMIM:607485
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... OMIM:610883
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... ORPHA:33543
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Obesity, Low frustration ... ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent... OMIM:300986
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Inability to walk, Chorea, Bruxism, D... OMIM:300260
Fg Syndrome 3
Hyperactivity, Agenesis of corpus callosum OMIM:300406
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... ORPHA:208447
Proximal Myotonic Myopathy
Cataract ORPHA:606
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Failure to thrive, Aggressive behavior ORPHA:369939
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Irritability, Abnormal t... ORPHA:449291
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Agitation, Emotional lability, Failure to thrive, Abnormal repetitive mannerisms ORPHA:927
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Agenesis of corpus callosum, Dysphag... OMIM:619435
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait, Aggressive behavior OMIM:300958
Stickler Syndrome, Type V
Retinal detachment, Cataract OMIM:614284
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms, Lateral ventricle dilatation OMIM:617751
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... OMIM:618914
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Self-mutilation ORPHA:52503
Choreoacanthocytosis
Chorea, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-mutilation o... ORPHA:2388
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Ina... ORPHA:98794
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Abnormal repetitive mannerisms, Self-injurious behavior, Compulsive be... OMIM:613174
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Abnormal emotion ORPHA:168782
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr... OMIM:617796
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
4Q21 Microdeletion Syndrome
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:238750
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Obesity, Agenesis of corpus callosum, Gait imbalance, A... OMIM:619312
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-banging, Attention defi... OMIM:619103
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
48,Xxyy Syndrome
Ataxia, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitive manner... ORPHA:10
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior ORPHA:309246
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... OMIM:300912
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms OMIM:618004
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Failure to thrive OMIM:619239
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Dysphagia, Loss of ambulation, Emotional lability, Abnormal repetitive mannerisms ORPHA:79264
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia OMIM:617807
13Q12.3 Microdeletion Syndrome
Hyperactivity, Impaired pain sensation, Obesity, Failure to thrive, Self-mutilation ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... OMIM:300486
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Failure to thrive, Abnormal r... ORPHA:778
Cri-Du-Chat Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Difficulty walking, Abnormal repet... OMIM:123450
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma OMIM:601794
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Gait disturbance, Disinhibition,... ORPHA:43
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Abnormal repetitive mannerisms OMIM:619877
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression ORPHA:98784
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... OMIM:618205
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Low frustration toleran... ORPHA:457279
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Head-banging, Self-injurious behavior, Lateral ventricle dilatation, Attention defici... OMIM:619575
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Agenesis of corpus callosum, Failure to thrive, Abnormal repetitive mannerisms, Inappropriate lau... OMIM:615802
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia... OMIM:617061
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Depression ORPHA:309288
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Hypoparathyroidism, Familial Isolated, 1
Irritability, Cataract OMIM:146200
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Bruxism, Agenesis of corpus callosum ORPHA:48652
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:261144
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Attention deficit hyperactivity diso... OMIM:620073
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Overweight, Inability to walk, Obesity, Lateral ventricle dilatation, Agitation, Dysphagi... OMIM:619229
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis... ORPHA:819
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:476126
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Emotio... OMIM:610217
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Failure to thrive, Abnormal r... ORPHA:261197
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... OMIM:300352
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Hyperactivity OMIM:609727
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... OMIM:619293
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia OMIM:619428
Rauch-Steindl Syndrome
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Rett Syndrome, Congenital Variant
Chorea, Tongue thrusting, Athetosis, Irritability, Bruxism, Abnormal repetitive mannerisms OMIM:613454
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Cystinosis
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Irritability... OMIM:616364
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Brain-Lung-Thyroid Syndrome
Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Abnormal drinking behavior, Choreoatheto... ORPHA:209905
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Retin... OMIM:612109
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Agitation, Weight loss ORPHA:424
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Anis... ORPHA:263479
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Partial agenesis of the corpus callosum, Lateral ventricle dil... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Compulsive beha... OMIM:615656
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... ORPHA:1001
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil... OMIM:212066
Bainbridge-Ropers Syndrome
Inability to walk, Self-injurious behavior, Lateral ventricle dilatation, Recurrent hand flapping... OMIM:615485
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Emotional lability, Hyperactivity, Self-mutilation OMIM:256800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... OMIM:620330
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Atelis Syndrome 2
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract OMIM:620185
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Agenesis of corpus callosum, Abnormal repe... ORPHA:261494
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Impaired pain sensation, Unsteady gait, Tongue thrusting, ... OMIM:606232
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Microphthalmia, Syndromic 5
Microcornea, Coloboma, Cataract, Optic nerve hypoplasia OMIM:610125
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma... OMIM:619005
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Partial agenesis of the corpus callosum, Self-injurious behavior, Agenesis of corp... OMIM:619512
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking, Comp... ORPHA:177907
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, HbH hemoglobin, Macular coloboma ORPHA:423479
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor... ORPHA:468678
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low frustration tolerance, Dysphagia, Failure to thrive, Abno... ORPHA:319182
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Abnormal repetitive... ORPHA:522077
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... OMIM:619475
Argininemia
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Irritability, Truncal obesity, L... OMIM:615873
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corn... ORPHA:649
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... ORPHA:96121
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Abnormal hemoglobin, Anemia, Depression ORPHA:847
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Gait disturbance, Dysp... OMIM:234200
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Depression ORPHA:330015
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms OMIM:300672
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Histidinemia
Hyperactivity ORPHA:2157
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, ... OMIM:617330
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Gait disturbance, Attention deficit hyperactivity disorder, Failure to... ORPHA:464311
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe failure to thrive, Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetiti... ORPHA:468631
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Gait disturbance, Failure to thrive, Abnormal repetitiv... ORPHA:464306
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms OMIM:619777
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... OMIM:614756
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Pain insensitivity, Somatic sensory dysfunction, Impulsivity, Impaire... ORPHA:642
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur... ORPHA:513456
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Kinsship Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Bruxism OMIM:619297
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity OMIM:301030
Nmda Receptor Encephalitis
Hypersexuality, Chorea, Depression, Choreoathetosis, Agitation, Mania, Abnormal repetitive manner... ORPHA:217253
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... OMIM:105650
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Obesity, Difficulty walking OMIM:618653
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Abnormal repetitive mannerisms, Obesity, Aggressive behavior OMIM:301066
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:508533
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... ORPHA:580
1P36 Deletion Syndrome
Polyphagia, Obesity, Self-injurious behavior, Agenesis of corpus callosum, Gait disturbance, Dysp... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small for gestational age, Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:508498
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... ORPHA:534
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... OMIM:300166
Wolf-Hirschhorn Syndrome
Small for gestational age, Agenesis of corpus callosum, Failure to thrive, Abnormal repetitive ma... OMIM:194190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Gait imbalance, Dysphagia OMIM:616268
Ogden Syndrome
Irritability, Abnormal repetitive mannerisms, Dysphagia OMIM:300855
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent... OMIM:259050
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms, Truncal obesity OMIM:612474
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Coffin-Siris Syndrome 12
Failure to thrive, Abnormal repetitive mannerisms OMIM:619325
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Agenesis of corpus callosu... ORPHA:261537
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Bruxism, Agenesis of corpus... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Agenesis of corpus callosu... ORPHA:261552
Acromelic Frontonasal Dysplasia
Agenesis of corpus callosum ORPHA:1827

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 Zswim6

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 Zswim6.

No publications found that use IMPC mice or data for Zswim6.

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MGI Allele Allele Type Produced
Zswim6em1(IMPC)J Exon Deletion Mice

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