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

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 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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
EEG with centrotemporal focal spike waves, Attention deficit hyperactivity disorder, Speech apraxia OMIM:245570
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Autism
EEG abnormality, Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, J... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Mohr-Tranebjaerg Syndrome
Dystonia, Global brain atrophy, Sensorineural hearing impairment, Generalized dystonia, Abnormali... ORPHA:52368
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Spastic diplegia, Stereotypy, Optic atrophy OMIM:617830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Cerebral atrophy, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia, Spasti... ORPHA:99852
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
Deafness, Congenital, And Familial Myoclonic Epilepsy
Hearing impairment, Myoclonus OMIM:220300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Stereotypy, Macrotia OMIM:615541
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... ORPHA:320401
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... OMIM:617862
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Intellectual Developmental Disorder, X-Linked 104
Tremor, Abnormality of the pinna, Ataxia, Cerebral cortical atrophy, Hyperactivity, Optic atrophy... OMIM:300983
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Cerebral atrophy, Ataxia, Myoclonus, Hyp... OMIM:615924
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Hyperprolinemia, Type I
Stereotypy, EEG abnormality, Ataxia, Hyperactivity OMIM:239500
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Vertigo, Ataxia ORPHA:71518
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Brain atrophy, Low-set ears, EEG abnormality, Stereotypy, Hyperactivit... OMIM:618718
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... ORPHA:206443
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, EEG abnormality, Stere... OMIM:619150
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Developmental And Epileptic Encephalopathy 30
Stereotypy, Hypsarrhythmia OMIM:616341
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Posteriorly rotated ears, Low-set ears, Stereotypy, Hyperactivity OMIM:609425
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Hypertonia, Ataxia, Brain atro... OMIM:619092
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG with focal epileptifo... ORPHA:88616
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing impairment, Hyperactivity OMIM:609924
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cerebral atrophy, Stereotypy, Spasticity OMIM:617393
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Chorea, EEG abnormality, Stereotypical hand wringing OMIM:618760
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, EEG abnormality, Stereotypy, Involun... OMIM:618218
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Episodic Ataxia Type 4
Incoordination, Vertigo, Ataxia, Abnormal head movements, Frequent falls ORPHA:79136
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormal... OMIM:617519
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Optic Atrophy 11
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Brain atrophy, Hearing impairment, Dys... OMIM:617302
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Adult-Onset Autosomal Dominant Leukodystrophy
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Sen... ORPHA:99027
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Distal sensory impairm... OMIM:601455
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy, Macrotia OMIM:618504
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Babinski sign, Stereotypy, Rigi... OMIM:600795
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Impaired vibrator... ORPHA:101085
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Cln5 Disease
Dysdiadochokinesis, Atrophy/Degeneration affecting the central nervous system, Tremor, Abnormal c... ORPHA:228360
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Ataxia, Hyperactivity OMIM:613402
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculati... ORPHA:276198
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Stereoty... OMIM:617695
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Cerebellar at... ORPHA:248111
Adult Krabbe Disease
Hemiplegia, Hoffmann sign, Prolonged brainstem auditory evoked potentials, Clumsiness, Impaired t... ORPHA:206448
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Hyperactivity, Tetraplegia, Optic atrophy OMIM:274270
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... ORPHA:157941
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Cerebral atrophy, Hypsarrhythmia, Spasticity ORPHA:500545
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Cerebellar atrophy, Stereotyp... OMIM:618917
Autism, Susceptibility To, 3
EEG abnormality, Stereotypy OMIM:608049
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ata... OMIM:618598
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Anteverted ears, Macrotia, Gait disturbance, Poor coordination, Ataxia, Abnormality of pa... ORPHA:544254
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Choreoathetosis, Dystonia, Spastic paraparesis, Cerebr... OMIM:608804
Spastic Paraplegia 79, Autosomal Recessive
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Neurod... OMIM:615491
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Difficulty walking, Cerebral cortical atrophy, Cerebellar atrophy, Waddling gait, Babin... ORPHA:280763
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Corpus callosum atrophy, Abnormal pyramidal sign, Brain atrophy, Cerebral cortical atrophy, Heari... ORPHA:369939
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Gait disturbance, EEG with continuous slow activity... ORPHA:275864
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, Low-set ears, EEG abnormality, Babinski sign, Hyperactivity, Spasticity OMIM:617773
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Babinski sign, Stereotypy, Spasticity OMIM:612069
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, ... OMIM:614104
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Hypsarrhythmia, Ataxia, Stereotypy, Hyperactivity, Spasticity OMIM:300912
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, EEG with spike-wave complexes (>3.5 Hz), Chorea, Hyperkinetic moveme... OMIM:619317
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Cerebral cortical atrophy, Cerebellar atrophy, S... ORPHA:85278
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Low-set ears, Stereotypy, Hyperactivity, Repetitive compulsive behavior, Cerebral pal... ORPHA:352490
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Head titubation, Ataxia, Dysmetria, Intention tremor, Babinski sign, Optic atrophy OMIM:618688
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Occipital cortical atrophy, Hypsarrhythmia, Multifocal epileptiform discharges... ORPHA:411986
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Snijders Blok-Campeau Syndrome
Speech apraxia, Low-set ears, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy ORPHA:457240
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Falls, Myoclonus, Hyperactivity ORPHA:2382
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Upper limb spasticity, Lower limb spasticity, Sensorineural hearing impairmen... OMIM:609727
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Stereotypy, Speech apraxia OMIM:613670
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, EEG with spike-wave complexes, EEG with series of focal sp... ORPHA:168491
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Global brain atrophy, EEG with focal epileptiform discharges, He... ORPHA:1929
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Abnormality of the pinna, Unsteady gait, Stereotypy, O... OMIM:617807
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Attention d... OMIM:617384
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Absent brainstem auditory responses, Spastic tetraplegia, ... ORPHA:3240
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Hearing impairment, Broad-based gait, Spasticity ORPHA:457260
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Stereotypy, Progressive spasticity DECIPHER:45
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Shukla-Vernon Syndrome
Cerebellar atrophy, Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
Fragile X Syndrome
Hyperactivity, Abnormal head movements, Macrotia OMIM:300624
Smith-Magenis Syndrome
Impaired pain sensation, Morphological abnormality of the middle ear, Abnormality of the outer ea... OMIM:182290
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Interictal EEG abnormality, Poor motor coordination, Poor fine motor coordination, Lo... ORPHA:79264
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Cerebral atrophy, N... OMIM:610217
Lamb-Shaffer Syndrome
Ataxia, Stereotypy, Hyperactivity, Optic atrophy, Upper motor neuron dysfunction ORPHA:530983
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Sensorineural hearing impairment, Hyperactivity OMIM:618342
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Gait ataxia, Interictal EEG abnormality, EEG with temporal focal s... ORPHA:98818
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, EEG abnormality, Recurrent hand flapping, Macrotia OMIM:617268
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, Stereotypy, S... ORPHA:561854
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Lower limb spasticity, Parkinsonism, Hyperactivity, Focal EEG discharges ... ORPHA:3077
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperactivity OMIM:605899
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears, Tics, Stereotypy, Attention def... OMIM:617808
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Abnormal autonom... ORPHA:778
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Lethargy, Head titubation, Cerebellar atrophy, S... OMIM:301790
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Truncal ataxia, Diffuse cerebellar atrophy, Progressive gait ataxia, Limb ataxia, Abnormal pyrami... ORPHA:247815
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglionic megacolon, Ab... OMIM:609136
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Abnormal pyramidal sign, Tetraparesis, Cerebral atr... ORPHA:363400
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Interictal epileptiform activity, Stereotypy, Involuntary movements, EEG wit... ORPHA:98784
Coffin-Siris Syndrome 7
Macrotia, Recurrent otitis media, Posteriorly rotated ears, Low-set ears, Hearing impairment, Hyp... OMIM:618027
4Q21 Microdeletion Syndrome
Low-set ears, Hearing impairment, Tremor, Stereotypy ORPHA:238750
Pick Disease Of Brain
Neuronal loss in central nervous system, Stereotypy OMIM:172700
Mental Retardation, Autosomal Dominant 48
Low-set ears, Sensorineural hearing impairment, Abnormality of the pinna, Stereotypy OMIM:617751
Mental Retardation, Autosomal Dominant 34
Hearing impairment, Stereotypy, Broad-based gait OMIM:616351
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Tetraparesis, Ataxia, Brain atrophy, Cerebellar atrophy, Abnormal auditory evok... OMIM:619260
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618906
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Multifocal epileptiform discha... ORPHA:505652
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Stereotypy, Macrotia ORPHA:391307
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Stereotypy, Hyperactivity, Spasticity OMIM:610042
Developmental And Epileptic Encephalopathy 87
Hypertonia, Cerebral atrophy, Recurrent hand flapping, Hypsarrhythmia OMIM:618916
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Macrotia OMIM:300558
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Somatic sensor... ORPHA:43
Mental Retardation, Autosomal Dominant 40
Low-set ears, Gait ataxia, Stereotypy, Impaired pain sensation OMIM:616579
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypoplastic helices, Recurrent otitis media, EEG abnormality, Abnormality of th... ORPHA:391372
Optic Atrophy-Intellectual Disability Syndrome
Hearing impairment, Protruding ear, Abnormality of the helix, Optic nerve hypoplasia, Repetitive ... ORPHA:401777
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Recurrent hand flapping, Spasticity OMIM:618859
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Ataxia, Cerebellar atrophy, EEG abnormality, Hyperactivity OMIM:271980
Hydroxykynureninuria
Hypertonia, Congenital sensorineural hearing impairment, Stereotypy ORPHA:79155
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Global brain atrophy, Difficulty walking, Gait disturb... ORPHA:139396
Potocki-Lupski Syndrome
Hearing impairment, EEG abnormality, Stereotypy, Hyperactivity OMIM:610883
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Spastic diplegia, Ankle clonus, Opisthotonus, Hea... ORPHA:206436
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Hearing impairment, Broad-based gait, Spasticity OMIM:300958
Myoclonic-Astatic Epilepsy
Tremor, Abnormal pyramidal sign, Ataxia, Interictal epileptiform activity, EEG with polyspike wav... ORPHA:1942
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Choreoathetosis, Eyelid apraxia, Motor tics, Dystonia, Abnormality of extrapyramidal moto... OMIM:234200
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormal pyramidal sign, Spastic tetraparesis, Abnormal autonomic ner... ORPHA:35069
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Sotos Syndrome 3
Hyperactivity OMIM:617169
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Optic nerve hypoplasia, Stereotypy ORPHA:228384
48,Xxyy Syndrome
Tremor, Chronic otitis media, Ataxia, Stereotypy, Attention deficit hyperactivity disorder ORPHA:10
Cerebrotendinous Xanthomatosis
Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain atrophy, ... ORPHA:909
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Hearing impairment, Attention deficit hyperactivity disorder, Stereo... ORPHA:1727
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:760
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Optic atrophy, Stereotypy ORPHA:313892
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Aganglionic megacolon, Poor hand-eye coordination, Stereotypy, Underf... OMIM:300352
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Recurrent otitis media, Brain atrophy, Spasticity OMIM:615286
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Stereotypy, Hyperactivity ORPHA:3306
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Spastic gait, Spastic tetraplegia, Dysmetria, Stereotypy, Babinski sign, Facial d... OMIM:619121
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Recurrent hand flapping, Hyperactivity OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Abnormality of the pinna, Cerebellar vermis atrophy, Hyperactivity OMIM:300354
Radio-Tartaglia Syndrome
Tremor, Conductive hearing impairment, Ataxia, Low-set ears, Hearing impairment, Stereotypy, Atte... OMIM:619312
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Conductive hearing impairment, Paroxysmal dyskinesia, Sensorineural hea... ORPHA:261197
Dilated Cardiomyopathy With Ataxia
Dystonia, Ataxia, Action tremor, Lower limb spasticity, Bilateral sensorineural hearing impairmen... ORPHA:66634
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Cerebellar vermis atrophy, Tongue thrusting, Atrophy/Degeneration affect... ORPHA:77299
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Abnormality of the pinna, Low-set ears, Hearing impairment, Steno... OMIM:123450
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, EEG with generalized slow activity, Stereotypy ORPHA:397612
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Tetraparesis, Stereotypy ORPHA:85277
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, EEG with frontal sharp slow waves, Global brain atrophy, Hypsarrhythmia, Brain... ORPHA:457351
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Sensorineural hearing impairment, Cerebral palsy ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypertonia, Sensorineural hearing impairment, Cerebral palsy ORPHA:529799
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Lower limb spasticity, Cerebral cor... ORPHA:485350
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Hypertonia, Myoclonus, Stereotypical hand wringing, Diffuse ce... ORPHA:289266
Ogden Syndrome
Lethargy, Macrotia, Hypertonia, Cerebral atrophy, Low-set ears, Torticollis, Abnormal head moveme... ORPHA:276432
Ck Syndrome
Posteriorly rotated ears, Hyperactivity ORPHA:251383
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, EEG abnormality, Tongue thrusting, Myoclonus, Recurrent hand flapping, Hyperactiv... ORPHA:98794
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Chorea, Protruding ear, EEG abnormality, Tongue thrusting, Stereotypy, Athetos... OMIM:613454
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Interictal EEG abnormality, EEG with temporal epileptiform dischar... ORPHA:363558
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Macrotia, Recurrent otitis media, Recurrent hand flapping, Hyperactivity, Stereotypy, Attention d... ORPHA:449291
Cockayne Syndrome Type 1
Tremor, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Absent brains... ORPHA:90321
Bilateral Generalized Polymicrogyria
Dystonia, Eyelid myoclonus, Paroxysmal dyskinesia, Oculogyric crisis, Spastic tetraplegia, Stereo... ORPHA:208447
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, EEG abnormality, Ataxia, Hyperactivity ORPHA:411515
Ck Syndrome
Posteriorly rotated ears, Hyperactivity OMIM:300831
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Cerebral atrophy, Oculogyric crisis, Stereotypy, Spasticity ORPHA:178469
Usher Syndrome Type 1
Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineural hearing impairment... ORPHA:231169
Kohlschutter-Tonz Syndrome-Like
Inability to walk, Tremor, Global brain atrophy, Upper limb spasticity, Hypsarrhythmia, Ataxia, P... OMIM:619229
Mental Retardation, Autosomal Dominant 43
Cerebral atrophy, Hyperactivity OMIM:616977
Megalocornea-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Stereotypy ORPHA:2479
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Cerebral atrophy, Low-set ears, Opisthotonus, Cerebellar atrophy,... OMIM:103050
Hyperphosphatasia With Mental Retardation Syndrome 6
EEG with multifocal slow activity, Thickened helices, Large earlobe, Hyperactivity OMIM:616809
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Exaggerated startle response, Limb hypertonia, Torticollis,... OMIM:608643
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Macrotia, Chorea, Pain insensitivity, Ataxia, Low-set ears, Lower limb spastic... OMIM:300260
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypsarrhythmia, Hypertonia, Brain atrophy, Low-set ears, Lower limb spasticity, Protruding ear, S... ORPHA:447997
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Dystonia, Spastic ataxia, Spastic diplegia, Abnormal autonomic nervous system ... ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Stereotypy OMIM:618825
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Congenital sensorineural hearing impairment, Sensorineural hearing impair... ORPHA:500159
Childhood Absence Epilepsy
Punding, Jerky head movements, EEG with spike-wave complexes (2.5-3.5 Hz), Limb myoclonus, Attent... ORPHA:64280
Hyperlysinemia
Tremor, EEG with spike-wave complexes, Clumsiness, Hypoplastic helices, Poor motor coordination, ... ORPHA:2203
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity OMIM:300143
Transketolase Deficiency
Hearing impairment, Attention deficit hyperactivity disorder, Stereotypy ORPHA:488618
Helsmoortel-Van Der Aa Syndrome
Low-set, posteriorly rotated ears, Stereotypy, Hyperactivity OMIM:615873
Microtia
Anotia, Hypoplastic helices, Atresia of the external auditory canal, Abnormality of the pinna, At... ORPHA:83463
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Macrotia, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Fasciculat... ORPHA:496641
3P25.3 Microdeletion Syndrome
Ataxia, Abnormality of the outer ear, Sensorineural hearing impairment, Stereotypy, Attention def... ORPHA:435638
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Atte... ORPHA:73272
Distal Xq28 Microduplication Syndrome
Absent antihelix, Microtia, Attention deficit hyperactivity disorder, Tip-toe gait, Stereotypical... ORPHA:293939
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Low-set ears, Microtia, Hyperactivity OMIM:618089
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Macrotia, Ataxia, Low-set ears, Multifocal epileptiform disc... ORPHA:369891
Mend Syndrome
Low-set ears, Hypertonia, Hyperactivity OMIM:300960
Brain-Lung-Thyroid Syndrome
Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, Ataxia, Sensorineural heari... ORPHA:209905
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Stereotypy, Low-set ears OMIM:619293
Intellectual Disability, Birk-Barel Type
Tongue fasciculations, Protruding ear, Hyperactivity ORPHA:166108
Angelman Syndrome
Inability to walk, Tremor, Ataxia, Cerebral cortical atrophy, EEG abnormality, Tongue thrusting, ... ORPHA:72
Alazami Syndrome
Stereotypical hand wringing, Low-set ears, Stereotypy ORPHA:319671
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormality of the antihelix, Protruding ear, Stereotypy ORPHA:261144
Smith-Magenis Syndrome
Conductive hearing impairment, Gait disturbance, Chronic otitis media, EEG abnormality, Stereotyp... ORPHA:819
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, EEG abnormality, Tongue thrusting, Gait imbalance, Broad-... ORPHA:98795
2Q23.1 Microdeletion Syndrome
Stereotypy, Ataxia, Hyperactivity ORPHA:228402
Angelman Syndrome Due To A Point Mutation
Ataxia, EEG abnormality, Tongue thrusting, Recurrent hand flapping, Gait imbalance, Broad-based gait ORPHA:411511
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
16P11.2P12.2 Microdeletion Syndrome
Impaired pain sensation, Tics, Chronic otitis media, Abnormality of the pinna, Low-set ears, Hear... ORPHA:261211
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Posteriorly rotated ears, Low-set ears, Hyperactivity OMIM:601853
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Stereotypy, Speech apraxia ORPHA:529965
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Ataxia, Posteriorly rotated ears, Low-set ears, Hyperactivity, Spasticity OMIM:618430
White-Sutton Syndrome
Incoordination, Abnormality of the outer ear, Posteriorly rotated ears, Cerebral cortical atrophy... ORPHA:468678
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cupped ear, Hypertonia, Cerebral palsy, Stereotypy OMIM:618914
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity, Macrotia OMIM:300486
Phelan-Mcdermid Syndrome
Macrotia, Hearing impairment, Protruding ear, Unsteady gait, Tongue thrusting, Stereotypy, Impair... OMIM:606232
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hyperactivity OMIM:252900
Congenital Disorder Of Glycosylation, Type Iia
Macrotia, Hypertonia, Posteriorly rotated ears, Unsteady gait, Sensorineural hearing impairment, ... OMIM:212066
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Sensorineural hearing impairment, Hyperactivity OMIM:600430
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Hearing impairment, Chronic otitis media, Hyperactivity ORPHA:412035
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stereotypy, Paraplegia, Lethargy, Ataxia ORPHA:927
Cockayne Syndrome A
Tremor, Gait disturbance, Cerebral atrophy, Abnormality of the pinna, Ataxia, Abnormal auditory e... OMIM:216400
X-Linked Intellectual Disability, Cabezas Type
Tremor, EEG abnormality, Hyperactivity, Abnormality of earlobe, Broad-based gait ORPHA:85293
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, EEG with spike-wave complexes, EEG with series of focal spikes, Chorea, Hyperkinetic mo... ORPHA:522077
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Attention deficit hyperactivity disorder, Cerebellar atrophy, Stereotypy OMIM:619103
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Stereotypy ORPHA:1001
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials, Cerebellar atrophy OMIM:193700
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Chromosome 5P13 Duplication Syndrome
Low-set ears, Stereotypy OMIM:613174
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Low-set ears, Cerebral cortical atrophy, Unsteady gait, Protrudi... OMIM:614756
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Limb tremor, Cerebral cortical atrophy, EEG abnormality, Hyp... OMIM:105830
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Hyperactivity OMIM:252920
Kleefstra Syndrome 1
Hearing impairment, Abnormality of the pinna, Stereotypy OMIM:610253
Cockayne Syndrome B
Tremor, Cerebral atrophy, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, ... OMIM:133540
Developmental And Epileptic Encephalopathy 2
Inability to walk, Hypsarrhythmia, EEG with generalized slow activity, Myoclonus, Stereotypy OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Macrotia, Hypertonia, Cerebral atrophy, Stereotypy, Babinski sign, Spasticity OMIM:615802
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Speech apraxia, Abnormality of the pinna, Hyperactivity, Macrotia OMIM:618505
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Choreoacanthocytosis
Hypertonia, Head titubation, Cerebral cortical atrophy, Progressive inability to walk, Falls, Hyp... ORPHA:2388
Brooks-Wisniewski-Brown syndrome
Poor coordination, Spastic diplegia, Cerebral atrophy, Posteriorly rotated ears, Cupped ear, Low-... OMIM:300612
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Gait ataxia, Truncal ataxia, Speech apraxia, Overfolded helix, Pain insensitivity,... OMIM:617330
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Hyperactivity OMIM:252930
Mucopolysaccharidosis, Type Iiid
Low-set ears, Hearing impairment, Hyperactivity OMIM:252940
Trisomy 10P
Low voltage EEG, Macrotia, Poor motor coordination, EEG with burst suppression, Posteriorly rotat... ORPHA:171929
Stankiewicz-Isidor Syndrome
Low-set ears, Hearing impairment, Hyperactivity, Abnormality of the optic disc OMIM:617516
7Q11.23 Microduplication Syndrome
Hyperactivity, Overfolded helix, Low-set, posteriorly rotated ears, Chronic otitis media, Hearing... ORPHA:96121
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Unsteady gait, Stereotypy, Ataxia ORPHA:457279
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hypsarrhythmia, Hyperactivity OMIM:619239
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Tics, Lower limb spasticity, Optic nerve hypoplasia, Hyperactivity ORPHA:363686
Mend Syndrome
Low-set ears, Limb hypertonia, Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Sensorineural hearing impairment, Protruding ear, Hyperactivity, Broad-based gait OMIM:609625
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Morphological abnormality of the... ORPHA:87
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Low-set ears, Tongue thrusting, Microtia, Hyperactivity, Stereotypical bo... ORPHA:261323
19P13.3 Microduplication Syndrome
Cerebral atrophy, Posteriorly rotated ears, Low-set ears, Hyperactivity, Microtia ORPHA:447980
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Cerebral cortical atrophy, Parkinsonism, Repetitive compulsive behavior, Neuronal loss i... OMIM:607485
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Stereotypy, Cataplexy, Spasticity OMIM:607625
Intellectual Disability-Strabismus Syndrome
Macrotia, Recurrent otitis media, Gait disturbance, Brain atrophy, Low-set ears, Hearing impairme... ORPHA:363528
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:476126
Early Infantile Epileptic Encephalopathy
Tremor, Episodic ataxia, Dystonia, EEG with spike-wave complexes, Uni- and bilateral multifocal e... ORPHA:1934
Joubert Syndrome 1
Oculomotor apraxia, Ataxia, Low-set ears, Hemifacial spasm, Hyperactivity, Optic disc pallor OMIM:213300
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Stereotypy ORPHA:213
Kleefstra Syndrome
Thickened helices, Chronic otitis media, Cerebral cortical atrophy, Hearing impairment, Stereotypy ORPHA:261494
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Low-set ears, External ear malformation, Sensorineural hearing imp... ORPHA:254346
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Thin ear helix, Low-set, posteriorly rotated ears, Hypertonia, Abnormal pyramidal sign, Hyperkine... ORPHA:468631
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hemiparesis, Posteriorly rotated ears, Hearing impairment, Tongue thrusting, Underdeveloped super... ORPHA:369950
16P12.1P12.3 Triplication Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Large earlobe, Hyperactivity ORPHA:485405
Mucopolysaccharidosis Type 3
Abnormality of the middle ear ossicles, Thickened helices, Vocal cord paresis, Conductive hearing... ORPHA:581
Mucopolysaccharidosis Type 2
Otosclerosis, Conductive hearing impairment, Papilledema, Sensorineural hearing impairment, Stere... ORPHA:580
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Norrie Disease
Macrotia, Hypertonia, Cerebral cortical atrophy, Protruding ear, Sensorineural hearing impairment... ORPHA:649
Ogden Syndrome
Macrotia, Hypertonia, Cerebral atrophy, Low-set ears, Stereotypy OMIM:300855
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Pain insensitivity, Abnormal autonomic nervou... OMIM:256800
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Spastic diplegia, Cerebral atrophy, Posteriorly rotated ears, Cupped ear, Hear... OMIM:309590
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Recurrent otitis media, Stereotypy, Abnormality of the Eustachian tube, Repetitive c... ORPHA:513456
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Cerebral cortical atrophy, Protruding ear, Optic disc pallor, Stereotypy, Atten... ORPHA:464311
Bainbridge-Ropers Syndrome
Inability to walk, Hypertonia, Recurrent hand flapping ORPHA:352577
Dyrk1A-Related Intellectual Disability Syndrome
Macrotia, Gait disturbance, Cerebral cortical atrophy, Protruding ear, Stereotypy, Hyperactivity,... ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Abnormally folded helix, Low-set ears, Hyperactivity OMIM:309520
Cardiofaciocutaneous Syndrome 1
Hypertonia, Oculomotor apraxia, Posteriorly rotated ears, Low-set ears, Hearing impairment, Optic... OMIM:115150
47,Xyy Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Glass Syndrome
Low-set ears, Broad-based gait, Hyperactivity OMIM:612313
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Bone Marrow Failure Syndrome 3
Cupped ear, Hearing impairment, Hyperactivity OMIM:617052
Argininemia
Spastic paraparesis, Progressive spastic quadriplegia, Spastic gait, Cerebellar atrophy, Hyperact... OMIM:207800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Difficulty walking, Stereotypy, Overfolded helix OMIM:618653
Seckel Syndrome 1
Low-set ears, Abnormality of the pinna, Hyperactivity OMIM:210600
Pediatric-Onset Graves Disease
Tremor, Hyperkinetic movements, Hyperactivity ORPHA:525731
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Wiedemann-Steiner Syndrome
Low-set ears, Stereotypy, Hyperactivity ORPHA:319182
Chromosome 13Q33-Q34 Deletion Syndrome
Posteriorly rotated ears, Hearing impairment, Hyperactivity OMIM:619148
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, EEG abnormality, Stereotypy, Impaired pain sensation OMIM:619005
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
EEG with spike-wave complexes, Global brain atrophy, Low-set ears, Multifocal epileptiform discha... ORPHA:369837
Arboleda-Tham Syndrome
Prominent antihelix, Small earlobe, Anteverted ears, Lower limb hypertonia, Prominent antitragus,... OMIM:616268
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Microcephaly 26, Primary, Autosomal Dominant
Stereotypical hand wringing, Spastic tetraparesis OMIM:619179
Citrullinemia Type Ii
Tremor, Lethargy, Hyperactivity ORPHA:247585
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears, Hyperactivity OMIM:235510
Distal Trisomy 17Q
Hyperactivity, Low-set, posteriorly rotated ears, Protruding ear, Bilateral sensorineural hearing... ORPHA:3379
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Ataxia, Recurrent hand flapping, Tip-toe gait ORPHA:3008
Charge Syndrome
Abnormal cranial nerve morphology, Hypoplasia of the semicircular canal, Overfolded helix, Low-se... ORPHA:138
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Opisthotonus, Hypertonia, Stereotypy ORPHA:508533
Noonan Syndrome
Low-set, posteriorly rotated ears, Thickened helices, Sensorineural hearing impairment, Aplasia o... ORPHA:648
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Facial palsy, Optic nerve hypoplasia, Stereotypy, Abnormality of the optic disc ORPHA:508498
1P36 Deletion Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Gait disturbance, Hemiplegia/he... ORPHA:1606
Hallermann-Streiff Syndrome
Low-set ears, Choreoathetosis, Hyperactivity OMIM:234100
Nijmegen Breakage Syndrome
Hyperactivity, Neurodegeneration, Otitis media, Macrotia OMIM:251260
Kinsship Syndrome
Spastic tetraparesis, Brain atrophy, Low-set ears, Myoclonus, Stereotypy OMIM:619297
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Gait disturbance, Ataxia, Cerebral cortical atrophy, Hearing impairment, Protruding e... ORPHA:268261
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Difficulty walking, Pain insensitivity, Imp... ORPHA:642
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Maternal Phenylketonuria
Hypoplastic helices, Hyperactivity ORPHA:2209
Coffin-Siris Syndrome 12
Prominent antihelix, Simple ear, Overfolding of the superior helices, Posteriorly rotated ears, L... OMIM:619325
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Stereotypy, Hyp... ORPHA:353281
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Spastic tetraparesis, Hyperactivity, Frequent falls ORPHA:239
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Chronic otitis media, Protruding ear, EEG abnormality, Stereot... ORPHA:534
Monosomy 9Q22.3
Low-set ears, Hyperactivity, Thickened ears ORPHA:77301
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Attention deficit hyperactivity disorder, Stereotypy ORPHA:177907
Dubowitz Syndrome
Low-set ears, Protruding ear, Otitis media, Hyperactivity OMIM:223370
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Involuntary movements, Exaggerated startle response, Myoclonus, Ster... ORPHA:438213
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Stereotypy OMIM:616682
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Hyperactivity OMIM:607721
Distal Monosomy 12Q
Impaired pain sensation, Bilateral conductive hearing impairment, Low-set ears, Prominent ear hel... ORPHA:96149
Rubinstein-Taybi Syndrome 1
Poor coordination, Aganglionic megacolon, Abnormality of the pinna, Low-set ears, Hearing impairm... OMIM:180849
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Vestibular dysfunction OMIM:606943
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Overfolded helix, Hypsarrhythmia, Hypertonia, Spastic tetraparesis, Posteriorly rotated ears, EEG... OMIM:301044
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Abnormality of the pinna, Sensorineural hearing impairment, Stenos... OMIM:194190
Monosomy 22Q13.3
Impaired pain sensation, Macrotia, Cerebellar cortical atrophy, Hearing impairment, Hyperactivity ORPHA:48652
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Hypertonia, Aganglionic megacolon, Posteriorly rotated ears, Low-set ears... OMIM:270400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Conductive hearing impairment, Low-set ears, Sensorineural hearing impairment, EEG abnormality, S... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Conductive hearing impairment, Low-set ears, Sensorineural hearing impairment, EEG abnormality, S... ORPHA:353277
Coffin-Siris Syndrome
Hearing impairment, Hyperactivity ORPHA:1465
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Hyperactivity ORPHA:457284
Witteveen-Kolk Syndrome
Macrotia, Abnormality of the outer ear, Cupped ear, Hearing impairment, Hyperactivity, Attention ... OMIM:613406
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Lower limb hypertonia, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impairment, ... OMIM:309580
Mowat-Wilson Syndrome
Uplifted earlobe, Inability to walk, EEG with spike-wave complexes, Conductive hearing impairment... ORPHA:2152
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:805
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Uplifted earlobe, Inability to walk, Recurrent otitis media, Poor fine motor coordination, Agangl... ORPHA:261537
Histidinemia
Hyperactivity ORPHA:2157
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Uplifted earlobe, Inability to walk, Recurrent otitis media, Poor fine motor coordination, Agangl... ORPHA:261552
8Q24.3 Microdeletion Syndrome
Asymmetry of the ears, Global brain atrophy, Tics, Posteriorly rotated ears, Optic nerve hypoplas... ORPHA:508488
Lowe Oculocerebrorenal Syndrome
Stereotypy 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.

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MGI Allele Allele Type Produced
Ush1gtm462463(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) Targeting vectors
Ush1gtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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