Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sine oculis binding protein
Synonyms:
Jxc1,  jc,  2900009C16Rik,  5330439J01Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
OMIM:613671

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Autism, Susceptibility To, 8
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:209850
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:617171
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Schizophrenia 15
Hyperactivity OMIM:613950
Chromosome 15Q11-Q13 Duplication Syndrome
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608636
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica OMIM:617270
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Autism, Susceptibility To, 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608049
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:239500
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... OMIM:609425
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:607453
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism,... OMIM:618718
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation, Hypsarrhythmia OMIM:619970
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Inappropriate laughter, Motor stereotypy, EEG abnormality, Bruxism, Aggressive behavior OMIM:619150
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:620270
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Motor stereotypy OMIM:617820
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Motor stereotypy, Aggressive behavior OMIM:619470
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia, Impulsivity OMIM:617113
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Deafness, Autosomal Recessive 109
Absent vestibular function, Abnormal semicircular canal morphology, Congenital sensorineural hear... OMIM:618013
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Optic atrophy, Aggressive behavior OMIM:300983
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Dysphagia, Motor stereotypy OMIM:617862
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
N-Acetylaspartate Deficiency
Self-mutilation, Motor stereotypy OMIM:614063
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s... ORPHA:275864
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Low-set ears, Compulsive behaviors, Recurrent hand flap... OMIM:620021
Lennox-Gastaut Syndrome
Hyperactivity, Vertigo, EEG abnormality, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Self-injurious behavior, Motor stereotypy OMIM:619690
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Inappropriate la... OMIM:614104
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Attention deficit hyperactivity di... OMIM:618342
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Head-banging, Hyperactivity, ... OMIM:182290
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior OMIM:600795
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Low-set ears, Compulsive behaviors, Repetitive compulsive behavior, Motor stereoty... ORPHA:352490
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Macrotia, Hypsarrhythmia, Motor stereotypy OMIM:619877
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy OMIM:618504
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, EEG with frontal focal spikes, EEG with generalized epileptiform disc... ORPHA:98818
Baker-Gordon Syndrome
Self-injurious behavior, EEG abnormality, Motor stereotypy OMIM:618218
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, EEG with generalized epileptiform discharges,... OMIM:619827
Aminoacylase 1 Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:609924
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Pontocerebellar Hypoplasia, Type 11
Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious b... OMIM:617695
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Motor... OMIM:600430
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Prominent ear helix, Motor stereotypy, Large earlobe, Multifocal epileptiform dis... ORPHA:411986
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
Fragile X Syndrome
Hyperactivity, Macrotia, Recurrent hand flapping, Self-biting OMIM:300624
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:457260
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Overfolded helix, Large fleshy ears, Motor stereotypy OMIM:619092
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hearing impairment, Motor stereotypy, EEG abnormality OMIM:610883
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231169
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Hyperactivity, Aggressive behavior ORPHA:369939
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior OMIM:301029
Xq28 (MECP2) duplication
Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy OMIM:617393
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Impulsivity OMIM:300143
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... OMIM:618027
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Christianson Syndrome
Macrotia, Inappropriate laughter, Dysphagia, Motor stereotypy ORPHA:85278
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti... ORPHA:449291
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Abnormal amplitude of f... ORPHA:168491
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Profound sensorineural hearing impairment, Self-injurious behavior, Absent internal auditory cana... OMIM:620469
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Foxg1 Syndrome
Motor stereotypy, Bruxism, Stereotypical hand wringing, Paroxysmal bursts of laughter ORPHA:561854
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy OMIM:616351
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy OMIM:620502
Lopes-Maciel-Rodan Syndrome
Agitation, Bruxism, Dysphagia, Motor stereotypy OMIM:617435
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Interictal epileptiform activity, EEG with focal spikes, Increased theta frequency activity in EE... ORPHA:98784
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormality, Aggre... OMIM:610042
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy, Abnormal speech di... ORPHA:397612
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster... OMIM:617751
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... ORPHA:313892
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Ag... OMIM:618430
4Q21 Microdeletion Syndrome
Hearing impairment, Self-injurious behavior, Low-set ears, Motor stereotypy ORPHA:238750
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
22Q11.2 Duplication Syndrome
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:1727
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Interictal epileptiform activity, Bilateral conductive hearing impairment, Low-set ears, Dysphagi... OMIM:617802
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressiv... OMIM:618825
Cri-Du-Chat Syndrome
Optic atrophy, Hyperactivity, Stenosis of the external auditory canal, Abnormal pinna morphology,... OMIM:123450
Developmental And Epileptic Encephalopathy 6B
Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Motor stereotypy OMIM:619317
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Hearing impairment, Motor stereotypy, Att... OMIM:619580
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Self-mutilation, Motor stereotypy ORPHA:457240
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy OMIM:617600
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment OMIM:300406
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ... OMIM:617796
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear, Aggressive behavior OMIM:618914
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, EEG with focal spikes, Interictal epileptiform activity,... ORPHA:163681
Developmental And Epileptic Encephalopathy 64
Macrotia, Bruxism, Motor stereotypy, Self-injurious behavior OMIM:618004
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal temper tantrums, Optic atrophy, Motor stereotypy ORPHA:530983
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Congenital... ORPHA:500159
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Hypsarrhythmia, Recurrent hand flapping, Stereotypical hand wringing, Macrotia, St... OMIM:300912
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy ORPHA:280763
Transketolase Deficiency
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:488618
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Motor stereotypy ORPHA:228384
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Prominent antihelix, Motor stereotypy OMIM:617807
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Low-set ears, Motor stereotypy OMIM:618205
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, EEG with occipital epileptiform discharges, EEG with parietal epileptiform discha... OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity diso... OMIM:617061
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Chromosome 5P13 Duplication Syndrome
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... OMIM:613174
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Hyperactivity, Low-se... ORPHA:251061
Radio-Tartaglia Syndrome
Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairment, Attention deficit h... OMIM:619312
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
X-Linked Adrenoleukodystrophy
Hyperactivity, Progressive hearing impairment, Disinhibition, Attention deficit hyperactivity dis... ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Macrotia, Self-mutilation, Motor stereotypy OMIM:300486
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:620242
Rauch-Steindl Syndrome
Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy, Protruding ear, Aggre... OMIM:619695
48,Xxyy Syndrome
Chronic otitis media, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Macrotia, Dysphagia, Motor stereotypy, Repetitive compulsive behavior, Bruxism OMIM:300260
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Dysphagia, Motor stereotypy, Interictal EEG abnormality ORPHA:79264
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:252920
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment OMIM:608747
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Motor stereotypy ORPHA:261144
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Low-set ears, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperac... OMIM:619103
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior OMIM:616393
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy, Motor tics OMIM:619725
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Posteriorly rotated ears, Motor stereotypy, Overfriendliness, Attention deficit hyp... OMIM:619293
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Motor stereotypy, Overfriendliness OMIM:616579
White-Sutton Syndrome
Hyperactivity, Sensorineural hearing impairment, Optic nerve hypoplasia, Low-set ears, Bilateral ... OMIM:616364
Ritscher-Schinzel Syndrome 4
Impulsivity, Macrotia, Dysphagia, Motor stereotypy, Aggressive behavior OMIM:619435
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity ... OMIM:300986
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia ORPHA:208447
Rett Syndrome, Congenital Variant
Tongue thrusting, Motor stereotypy, Protruding ear, EEG abnormality, Bruxism OMIM:613454
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration ORPHA:95433
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Sensorineural hearing impairment OMIM:609727
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Dysphagia, Motor stereotypy ORPHA:572013
Smith-Magenis Syndrome
Chronic otitis media, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperact... ORPHA:819
Kleefstra Syndrome 1
Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Motor stereotypy, Aggressive... OMIM:610253
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypsarrhythmia, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Motor stereo... ORPHA:457351
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Aggressive behavior, Microtia, Compulsive behaviors, Hearing impairment, Posteriorly rotated ears... OMIM:620494
Rett Syndrome
Agitation, Abnormal autonomic nervous system physiology, Stereotypical hand wringing, Motor stere... ORPHA:778
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Cholesteatoma, Sensorineur... OMIM:113650
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Hypsarrhythmia, Low-set ears, Dysphagia, Motor stereotypy, Protrudin... ORPHA:447997
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Sensorineural hearing impairment, EEG abnormality, Motor stereotypy ORPHA:2479
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Motor stereotypy, Abn... ORPHA:435638
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Macrotia, Posteriorl... OMIM:212066
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Conductive hearing im... ORPHA:261197
White-Sutton Syndrome
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Posteriorly... ORPHA:468678
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Attention deficit hyperactivity disorder, Facial diplegia, Motor stereotypy, Aggressive behavior OMIM:619121
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Motor stereotypy, Attention deficit hyperact... OMIM:300352
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te... OMIM:619575
Developmental And Epileptic Encephalopathy 66
Motor stereotypy OMIM:618067
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Punding, EEG with spike-wave complexes (2.5-3.5 Hz) ORPHA:64280
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Compulsive behaviors, Motor stereotypy OMIM:615656
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Macrotia, Prominent antihelix, Motor stereotypy OMIM:615802
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Conductive hearing impairment, Compulsive behaviors, Mo... ORPHA:1001
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Distal Deletion 10Q
Facial diplegia, Low-set ears, Cochlear malformation, Attention deficit hyperactivity disorder, C... ORPHA:96148
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Motor stereotypy ORPHA:927
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Aggressive behavior, Abnormal audi... ORPHA:909
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Den Hoed-De Boer-Voisin Syndrome
Multifocal epileptiform discharges, Agitation, Hypsarrhythmia, Stereotypical hand wringing, Poste... OMIM:619229
Phelan-Mcdermid Syndrome
Tongue thrusting, Hearing impairment, Macrotia, Motor stereotypy, Protruding ear, Bruxism, Aggres... OMIM:606232
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hyperactivity, Aggressive behavior ORPHA:401973
Gorham-Stout Disease
Hearing impairment, Abnormality of the internal auditory canal ORPHA:73
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Kleefstra Syndrome
Chronic otitis media, Hearing impairment, Motor stereotypy, Self-injurious behavior, Thickened he... ORPHA:261494
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low-set ears, Motor stereotypy, Aggressive behavior ORPHA:457279
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Optic nerve hypoplasia, Bilateral sensorineural hearing impairm... ORPHA:300570
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, EEG with generalized slow activity, Motor stereotypy OMIM:300672
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hyperactivi... ORPHA:96121
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behavior... OMIM:619512
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, EEG with focal sharp waves, EEG with series of focal spikes, Repet... ORPHA:522077
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Macrotia, Dysphagia, Motor stereotypy ORPHA:496641
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-mutilation... ORPHA:476126
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Sens... ORPHA:580
Bainbridge-Ropers Syndrome
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Motor stereotypy, Self-injurious... OMIM:615485
Pitt-Hopkins Syndrome
Self-injurious behavior, Thickened helices, Motor stereotypy, Cupped ear OMIM:610954
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Microtia, Low-set ears, Posteriorly rotated ears, Motor stereotypy OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, EEG with parietal focal spikes, EEG with central focal spikes, EEG with o... OMIM:301066
Wiedemann-Steiner Syndrome
Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Aggressive behavior ORPHA:319182
Van Esch-O'Driscoll Syndrome
Microtia, Impulsivity, Attention deficit hyperactivity disorder, Motor stereotypy, Protruding ear OMIM:301030
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Joubert Syndrome 6
Motor stereotypy OMIM:610688
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, EEG abnormality, Self-mutilation, Motor stereotypy OMIM:619005
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Multifocal epileptiform discharges, Agitation, Aggressive behavior, Restrictive behavior, Hyperac... OMIM:619475
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Bilateral sensorineural hearing impair... ORPHA:468631
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Low-set ears, Polyphagia, Compulsive behaviors, Facial palsy, Posteriorly rotated ... OMIM:615873
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp... ORPHA:649
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Compulsive behaviors, Skin-picking, Motor stereotypy, Att... ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Hyperactivity, Low-set ears, Hearing impairment, Posteriorly rotated ears, Motor s... OMIM:309590
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Protruding ear, Optic disc pallor ORPHA:464306
Kinsship Syndrome
Bruxism, Low-set ears, Motor stereotypy OMIM:619297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Attention deficit hyperactivity disorder, Optic disc pallor, Motor stereotypy ORPHA:464311
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Compulsive behav... ORPHA:353281
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Optic nerve hypoplasia, Polyphagia, Fixated interests, Attention defic... OMIM:620330
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Overfolded helix, Motor stereotypy OMIM:618653
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Low-set ears, Posteriorly rotated ears, Dysphagia, Motor stereotypy, Overfolded helix OMIM:617330
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Low-set ears, Attention deficit hyperactivity disorder, Short ear, Posteriorly rot... OMIM:614756
Niemann-Pick Disease, Type C2
Dysphagia, Motor stereotypy OMIM:607625
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Abnormal Eustachian tube morphology, Stereotypical body rocking, Motor st... ORPHA:513456
Arboleda-Tham Syndrome
Chronic otitis media, Optic atrophy, Recurrent otitis media, Small earlobe, Underdeveloped tragus... OMIM:616268
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing impairment, Motor s... ORPHA:508498
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Dysphagia, Motor stereotypy OMIM:619777
Nmda Receptor Encephalitis
Orthostatic tachycardia, Agitation, EEG with temporal sharp slow waves, Orthostatic hypotension, ... ORPHA:217253
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypsarrhythmia, Posteriorly rotated ears, Motor stereotypy, EEG abnormality, Overfolded helix OMIM:301044
1P36 Deletion Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Pol... ORPHA:1606
Coffin-Siris Syndrome 12
Protruding ear, Sensorineural hearing impairment, Low-set ears, Facial palsy, Posteriorly rotated... OMIM:619325
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, Abnormal helix morphology, Lo... ORPHA:798
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Low-set, posteriorly rotated ears, Compulsive behaviors, Attention deficit ... ORPHA:534
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy ORPHA:508533
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353277
Ogden Syndrome
Recurrent otitis media, Low-set ears, Macrotia, Dysphagia, Motor stereotypy, Protruding ear OMIM:300855
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Simple ear, Protruding ear, Sel... OMIM:612474
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Stenosis of the external auditory ca... OMIM:194190
Primrose Syndrome
Superiorly displaced ears, Calcification of the auricular cartilage, Tics, Hearing impairment, Ma... OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Posteriorly rotated ears, Dysphagia, Motor stereotypy, Att... OMIM:619522
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Aggressive behavior OMIM:309000
Mowat-Wilson Syndrome
Recurrent otitis media, Aganglionic megacolon, EEG with spike-wave complexes, Sensorineural heari... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Aganglionic megacolon, Sensorineural hearing impairment, Uplifted earlobe... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Recurrent otitis media, Aganglionic megacolon, Sensorineural hearing impairment, U... ORPHA:261552
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
OMIM:613671

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 Sobp

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 Sobp.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sobptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sobptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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