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Gene: Ush1g MGI:2450757

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

USH1 protein network component sans

Synonyms:

js, Sans

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Ush1g 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.

Human diseases associated with Ush1g (2 diseases)
Human diseases predicted to be associated with Ush1g (376 diseases)

The table below shows human diseases associated to Ush1g by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Usher Syndrome Type 1		Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop...	ORPHA:231169
Usher Syndrome, Type Ig		Abnormal vestibular function, Sensorineural hearing impairment	OMIM:606943

The table below shows human diseases predicted to be associated to Ush1g by phenotypic similarity.

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300425
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
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
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:607373
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:209850
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Hyperactivity, Low-set ears	ORPHA:436151
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300495
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Schizophrenia 15	Hyperactivity	OMIM:613950
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment	OMIM:620270
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:608636
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive ...	OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Caudate ...	ORPHA:52368
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia	OMIM:617830
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, EEG abnormality, Low-set ears,...	OMIM:618718
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Continuous spike and waves ...	OMIM:301008
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Ataxia, Abnormal auditory evoked potentials, Anorexia	ORPHA:99852
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Chorea, Bruxism, EEG abnormality, Falls, Inappropriate laughter, Dys...	OMIM:619150
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Cer...	OMIM:300983
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Atrophy/Degeneration affecting the brainstem, Hand tremor, ...	OMIM:617862
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:248510
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Hyperprolinemia, Type I	EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:608049
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia, Optic atrophy	OMIM:300928
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, EEG abnormality, Dystonia, Abnormal repetitive manner...	OMIM:617820
Autosomal Recessive Spastic Paraplegia Type 44	Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i...	ORPHA:320401
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:616341
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Multifoca...	ORPHA:599373
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia	OMIM:619970
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju...	ORPHA:382
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia, Torticollis	ORPHA:71518
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Pick Disease Of Brain	Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor...	OMIM:172700
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phonic tics, Hippocam...	OMIM:301107
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Dystonia, Inability to walk, Cerebral atrophy, Choreoathetosis, Bruxism, Conductive hearing impai...	OMIM:618497
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,...	ORPHA:251282
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Brain a...	OMIM:619092
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive...	OMIM:619690
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v...	OMIM:601455
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R...	ORPHA:101085
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a...	ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Dysto...	OMIM:600795
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Cerebral atrophy, Choreoathetosis, Bilateral s...	OMIM:619422
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem...	ORPHA:206443
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia	OMIM:612069
Christianson Syndrome	Cerebellar atrophy, Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Neuronal loss in ce...	ORPHA:85278
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Dystonia, A...	OMIM:618218
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha...	OMIM:618917
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity	OMIM:613402
Aminoacylase 1 Deficiency	Cerebellar atrophy, Hyperactivity, Sensorineural hearing impairment, Cerebral atrophy, Cerebral c...	OMIM:609924
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Tr...	ORPHA:228360
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Dysphagia, Cerebral atrophy...	OMIM:617435
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping	OMIM:300624
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait distur...	OMIM:618090
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Optic atrophy, B...	ORPHA:369939
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low...	OMIM:618342
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Cerebral atrophy, Dystonia, Neuronal loss in central nervous system	OMIM:615924
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick...	OMIM:614104
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Hypsarrhythmia, Athetosis, EEG abnormality, Gait disturbance, Dystonia, Recur...	OMIM:618141
Adult-Onset Autosomal Dominant Leukodystrophy	Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Impaired dista...	ORPHA:99027
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Macrotia, Gait apraxia, Optic atrophy, EEG with fo...	OMIM:617302
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ...	OMIM:620021
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor...	ORPHA:500180
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Obsessive-compulsive trait, Gait distu...	ORPHA:544254
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting...	OMIM:619580
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment	ORPHA:457260
Lennox-Gastaut Syndrome	EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior	ORPHA:2382
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple...	OMIM:619317
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large...	ORPHA:411986
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms	DECIPHER:45
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ...	OMIM:617807
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,...	OMIM:182290
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Inability to walk, Chorea, Bruxism, Self-injurious behavior, Dystonia, Macro...	OMIM:618004
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Progressive cer...	ORPHA:248111
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Optic atrophy, Cerebral atrophy	OMIM:274270
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Inability to walk, Cerebral atrophy, Bilateral conductive hearing impairment,...	OMIM:617802
Foxg1 Syndrome	Inability to walk, Bruxism, Choreoathetosis, Difficulty walking, Dystonia, Abnormal repetitive ma...	ORPHA:561854
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem...	ORPHA:1215
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Cerebellar atrophy, Difficulty walking, Dystonia, Abnormal repetitive mannerisms, ...	ORPHA:280763
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi...	ORPHA:352490
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Landau-Kleffner Syndrome	Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive...	ORPHA:98818
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se...	OMIM:619827
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in...	OMIM:600430
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Broad-based gait, Hyperactivity, Focal EEG discharges with secondary generalizati...	ORPHA:3077
Rett Syndrome	Inability to walk, EEG abnormality, Gait disturbance, Abnormal autonomic nervous system physiolog...	ORPHA:778
Shukla-Vernon Syndrome	Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A...	OMIM:301029
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms, Cerebral atrophy	OMIM:617393
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Rec...	OMIM:617903
Intellectual Developmental Disorder, Autosomal Recessive 61	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Unsteady gait, Dysmetria, Hypsarrhy...	OMIM:617773
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment	ORPHA:238750
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Ataxia, Tremor, Bruxism, Choreoathetosis, Shuffling gait, Dystonia,...	OMIM:300055
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe...	OMIM:619725
Intellectual Developmental Disorder, Autosomal Recessive 74	EEG with polyspike wave complexes, Hyperactivity	OMIM:617169
Rasmussen Subacute Encephalitis	Hyperactivity, Hemidystonia, Inability to walk, Increased theta frequency activity in EEG, EEG wi...	ORPHA:1929
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:530983
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Abnormal head movements, Chorea, Dysmetria, Gait ataxia, EEG ab...	ORPHA:157941
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv...	OMIM:617808
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin...	OMIM:610883
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Self-injurious behavior, EEG abnormality	OMIM:271980
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with...	ORPHA:397612
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Co...	ORPHA:168491
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural...	OMIM:619260
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Impulsivity, Uplifted earlobe	OMIM:300143
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Gait...	OMIM:103050
7Q31 Microdeletion Syndrome	Hyperactivity, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Dys...	ORPHA:251061
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment	OMIM:300958
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Recurrent otitis media, Hyperactivity, Brain atrophy, Aggressive behavior	OMIM:615286
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Optic atrophy, Dysmetria, Gait ataxia, Dy...	OMIM:610217
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s...	OMIM:618430
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Gait distur...	ORPHA:35069
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Head tremor, Continuous spike ...	OMIM:619428
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Dysphagia, L...	ORPHA:79264
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio...	OMIM:618027
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,...	OMIM:617101
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy...	ORPHA:457351
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Agitation, Macrotia	OMIM:300558
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Low-set ears, Dy...	OMIM:619312
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements	ORPHA:240103
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Abnormal neuron morphology, EEG with generalized polyspikes, ...	ORPHA:163681
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Facial diplegia, Attention deficit hyperactivity di...	OMIM:619121
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L...	OMIM:123450
Rett Syndrome, Congenital Variant	Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, EEG abnormality, Dystonia, Abnormal...	OMIM:613454
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation	ORPHA:52503
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity...	ORPHA:98784
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe...	ORPHA:3306
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Microtia, Dystonia, Fr...	OMIM:616977
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti...	OMIM:619435
New-Onset Refractory Status Epilepticus	Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with...	ORPHA:363558
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab...	OMIM:610042
Optic Atrophy-Intellectual Disability Syndrome	Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h...	ORPHA:401777
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms, Cerebral cortical atrophy	ORPHA:85277
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r...	OMIM:617751
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Huntington Disease-Like 3	Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Dyst...	ORPHA:157946
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, EEG abnormality, Inappropriate laughter, Polyphagia	ORPHA:411515
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D...	OMIM:617061
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,...	OMIM:300260
Fg Syndrome 3	Hyperactivity, Sensorineural hearing impairment	OMIM:300406
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal...	OMIM:618205
X-Linked Adrenoleukodystrophy	Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Progressive hearing impairment, ...	ORPHA:43
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno...	ORPHA:1727
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements	OMIM:245348
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, EEG with abnormally sl...	ORPHA:98794
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Overfriendliness, Hyperactivity, Restlessness, Ataxia, Aggressive behavior, Multifocal epileptifo...	ORPHA:369891
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At...	ORPHA:206448
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Low-set ears, Brain atrophy, Abnormal repetitive mannerisms...	OMIM:616579
48,Xxyy Syndrome	Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal repetiti...	ORPHA:10
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ...	OMIM:300352
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst...	ORPHA:261197
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Tremor, Uns...	ORPHA:1942
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver...	OMIM:618347
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Tremor, Chorea, Optic atrophy, Choreoathetosis, Difficulty walking, Dystonia	OMIM:615673
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Attention deficit hypera...	ORPHA:391372
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical b...	OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses...	OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag...	OMIM:609136
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:488618
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m...	ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear...	OMIM:616393
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity	OMIM:609727
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Angelman Syndrome	Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit...	ORPHA:72
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Resting tremor, Somatic sensory dysfunction, Ataxia, Abnor...	ORPHA:909
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp...	ORPHA:64280
Dilated Cardiomyopathy With Ataxia	Ataxia, Repetitive compulsive behavior, Atrophy/Degeneration affecting the brainstem, Optic atrop...	ORPHA:66634
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner...	OMIM:618914
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra...	OMIM:607485
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:252920
Ogden Syndrome	Abnormal head movements, Torticollis, Cerebral atrophy, Shuffling gait, Low-set ears, Macrotia	ORPHA:276432
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Sensorineural hearing impairment	OMIM:608747
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia	ORPHA:572013
13Q12.3 Microdeletion Syndrome	Hyperactivity, Impaired pain sensation, Chronic otitis media, Self-mutilation, Hearing impairment	ORPHA:412035
Developmental And Epileptic Encephalopathy 103	EEG with polyspike wave complexes, Hyperactivity, Ataxia, EEG with burst suppression, Opisthotonu...	OMIM:619913
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit...	ORPHA:208447
Megalocornea-Intellectual Disability Syndrome	Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma...	ORPHA:2479
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Multifoc...	OMIM:619229
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r...	OMIM:613174
Smith-Magenis Syndrome	Impaired pain sensation, Self-injurious behavior, EEG abnormality, Gait disturbance, Attention de...	ORPHA:819
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait disturbance, Difficulty ...	ORPHA:90321
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequen...	OMIM:619103
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod...	OMIM:617865
White-Sutton Syndrome	Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi...	OMIM:616364
3P25.3 Microdeletion Syndrome	Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac...	ORPHA:435638
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Inability to walk, Sensorineural h...	ORPHA:300570
Neurodevelopmental Disorder With Or Without Autism Or Seizures	EEG with burst suppression, Hyperactivity, Hypsarrhythmia	OMIM:619239
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L...	OMIM:212066
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Ataxia, Akinesia, Tremor, Optic atrophy, Phonic tics, Dysphagia, Blepharospasm, Ch...	OMIM:234200
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att...	OMIM:300986
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab...	OMIM:619695
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti...	OMIM:619293
Stankiewicz-Isidor Syndrome	Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment	OMIM:617516
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Optic atrophy, Dysphagia, Dystonia, Macrotia, Abnormal repetitive man...	ORPHA:496641
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri...	OMIM:610253
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti...	ORPHA:468678
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Ataxia, Inability to walk, Dysmetria, Gait disturbance, Difficulty walking, Dyspha...	ORPHA:139396
Mucopolysaccharidosis, Type Iiia	Hyperactivity, Hearing impairment	OMIM:252900
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Usher Syndrome Type 1	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop...	ORPHA:231169
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia	OMIM:617281
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Protruding ear, Hypsarrhythmia, Low-set ears, Dysphagia, Brain atrop...	ORPHA:447997
Angelman Syndrome	Broad-based gait, Hyperactivity, Ataxia, Limb tremor, EEG abnormality, Progressive gait ataxia, C...	OMIM:105830
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mann...	OMIM:615802
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Sensorineural hearing impairment, Ataxia	ORPHA:760
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat...	ORPHA:522077
Brain-Lung-Thyroid Syndrome	Hyperactivity, Ataxia, Abnormal eating behavior, Sensorineural hearing impairment, Chorea, Abnorm...	ORPHA:209905
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe...	ORPHA:457279
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Choreoacanthocytosis	Caudate atrophy, Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dysto...	ORPHA:2388
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior...	OMIM:614756
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ...	OMIM:619575
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Abnormal repetitive mannerisms, Agitation, Ataxia	ORPHA:927
Hyperlysinemia	Hyperactivity, Tremor, Dysmetria, Opisthotonus, Tip-toe gait, Dysphagia, Hypoplasia of the antihe...	ORPHA:2203
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia	ORPHA:79330
Nmda Receptor Encephalitis	Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, EEG ...	ORPHA:217253
Apert Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc...	ORPHA:87
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Pain insensitivity, Abnormal autonomic nervous system physiology, Postural hypoten...	OMIM:256800
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga...	ORPHA:96121
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Intenti...	OMIM:619475
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overf...	OMIM:617330
Kleefstra Syndrome	Aggressive behavior, Chronic otitis media, Self-injurious behavior, Cerebral cortical atrophy, Th...	ORPHA:261494
Mend Syndrome	Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior	ORPHA:401973
Cockayne Syndrome A	Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre...	OMIM:216400
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Pitt-Hopkins Syndrome	Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms	OMIM:610954
Cockayne Syndrome B	Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:133540
Legius Syndrome	Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Dystonia, Hearing...	ORPHA:137605
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han...	OMIM:615485
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in...	OMIM:619512
Developmental And Epileptic Encephalopathy 2	EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:300672
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu...	ORPHA:580
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Sensorineural hearing impairment, Cerebral atrophy, Microtia, Low-set e...	OMIM:301040
Cystinosis	Abnormal repetitive mannerisms, Polydipsia, Gait disturbance	ORPHA:213
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Impulsivity, Cerebral atrophy, Protruding ear, Microtia, Attention deficit hy...	OMIM:301030
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Diffuse cerebral atrophy, Tremor, EEG with burst suppression, ...	ORPHA:1934
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas...	OMIM:620330
Niemann-Pick Disease, Type C2	Abnormal repetitive mannerisms, Ataxia, Dysphagia, Dystonia	OMIM:607625
Developmental And Epileptic Encephalopathy 100	Chorea, EEG with photoparoxysmal response, Cerebral atrophy, Gait ataxia, Choreoathetosis, Brain ...	OMIM:619777
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:319182
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f...	OMIM:301066
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Optic disc pallor, Cerebellar atrophy, Optic nerve hypoplasia,...	ORPHA:468631
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Protruding ear, Gait disturbance, Attention deficit hyperactivity disorder, Ab...	ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive...	ORPHA:464306
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi...	ORPHA:513456
Charge Syndrome	Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Abnormality of the in...	ORPHA:138
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Lo...	ORPHA:369837
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overfolded helix, Difficulty walking, Abnormal repetitive mannerisms, Low-set ears	OMIM:618653
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel...	ORPHA:649
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Cerebral atrophy, Protruding ...	OMIM:309590
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic se...	ORPHA:642
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	EEG abnormality, Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity...	OMIM:619005
Kinsship Syndrome	Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism	OMIM:619297
Arboleda-Tham Syndrome	Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atrophy, Dysphag...	OMIM:616268
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear...	OMIM:615873
Noonan Syndrome	Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin...	ORPHA:648
Prader-Willi Syndrome Due To Translocation	Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353281
Histidinemia	Hyperactivity	ORPHA:2157
Sandifer Syndrome	Abnormal head movements, Torticollis	ORPHA:71272
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Polyphagia, S...	ORPHA:1606
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri...	ORPHA:508498
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Abnormal repetitive mannerisms, Opisthotonus	ORPHA:508533
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ...	OMIM:301044
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin...	OMIM:619325
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Superiorly d...	OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent...	OMIM:619522
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ...	OMIM:612474
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Protruding ear, Self-injurious behavior, EEG abnormality, Atte...	ORPHA:534
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353277
Ogden Syndrome	Torticollis, Cerebral atrophy, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, M...	OMIM:300855
Usher Syndrome, Type Ig	Abnormal vestibular function, Sensorineural hearing impairment	OMIM:606943
Charge Syndrome	Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ...	OMIM:214800
Wolf-Hirschhorn Syndrome	Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ...	OMIM:194190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Mowat-Wilson Syndrome	Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pai...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pai...	ORPHA:261552
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000

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 Ush1g

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 Ush1g.

No publications found that use IMPC mice or data for Ush1g.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ush1g^{tm462463(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ush1g^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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