Gene Summary

Name:
otogelin
Synonyms:
Otgn

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Otogem1(IMPC)J HOM   Early adult 0.00
abnormal auditory brainstem response Otogem1(IMPC)J HOM   Early adult 7.49×10-12
abnormal vibrissa morphology Otogem1(IMPC)J HOM Early adult 1.07×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

Electroretinography 3

Fundus file

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Eye Morphology

Images Slit Lamp

2 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

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

8 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 104
Positive Romberg sign, Prelingual sensorineural hearing impairment, Abnormal vestibular function,... OMIM:616515
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action... ORPHA:98807
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Dysdiadochokinesis, Abnormality of somatosensory evoked potenti... ORPHA:101007
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Ataxia, Torticollis, Abnormal head movements ORPHA:71518
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Autism, Susceptibility To, 8
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:209850
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Jerky head movements, Impaired proprioception, Spastic gait, Difficulty walking, Imp... ORPHA:251282
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster... OMIM:608636
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Athetosis, Abnormal head movements, Dystonia, Ataxia, Self-injurious behav... ORPHA:382
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Ataxia, Aggressive behavior OMIM:620270
Dystonia 31
Abnormal posturing, Difficulty walking, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm ... OMIM:619565
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, X-Linked 5, With Peripheral Neuropathy
Distal sensory impairment, Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Unst... OMIM:300614
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal audi... OMIM:601382
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Dystonia, Ataxia, Inappropriate laughter, Motor stereotypy, EEG abnormality, Bruxism, Agg... OMIM:619150
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Postlingual sensorineural hearing impairment, Tremor, Dystonia, Dysphagia, Pr... OMIM:304700
Episodic Ataxia Type 4
Vertigo, Ataxia, Abnormal head movements ORPHA:79136
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Epilepsy With Eyelid Myoclonia
EEG with spike-wave complexes, Continuous spike and waves during slow sleep, Interictal epileptif... ORPHA:139431
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Ataxia, Aggressive behavior OMIM:300983
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Ravine Syndrome
Anorexia, Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor OMIM:617862
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, EEG abnormality, Aggressive behavior OMIM:239500
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Posteriorly rotated ears, Motor stereotypy, A... OMIM:609425
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Inability to walk, Motor stereotypy OMIM:617830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Unsteady gait, Motor stereotypy, Self-mutilation OMIM:614063
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231169
Stxbp1-Related Encephalopathy
Hyperactivity, Hypsarrhythmia, Tremor, EEG with focal epileptiform discharges, Dystonia, Ataxia, ... ORPHA:599373
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, S... OMIM:601455
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Torticollis, Hyperact... ORPHA:251061
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Progressive cerebellar ataxia, Impaired vibration sensation in... ORPHA:95433
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior... OMIM:618718
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Fragile X Syndrome
Hyperactivity, Recurrent hand flapping, Macrotia, Abnormal head movements, Self-biting OMIM:300624
Huntington Disease-Like 1
Abnormal posturing, Jerky head movements, Chorea, Gait disturbance, Gait ataxia, Restlessness, Ab... ORPHA:157941
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, EEG abnormality, Inability to walk, Motor stereotypy OMIM:617820
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing, Dystonia, Self-injurious behavior, EEG abnormality OMIM:618760
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Ataxia, Attention deficit hyperactivity disorder OMIM:617113
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Tremor, Focal dystonia, Dysphagia, Somatic sensory dysfunction ORPHA:240103
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Paroxysmal dystonia, Dystonia, Ataxia, Generalized dystonia, Choreoathetosis OMIM:245348
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Distal sensory impairment, Aganglionic megacolon, Torticolli... OMIM:609136
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Tremor, Low-set ears, Gait ataxia, Ataxia, Large fleshy ears, Motor s... OMIM:619092
Baker-Gordon Syndrome
Dystonia, Ataxia, Motor stereotypy, Self-injurious behavior, EEG abnormality, Choreoathetosis OMIM:618218
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Compulsive behaviors, Stereotypical hand wringing, Gait ataxia, Dyston... OMIM:618917
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Impaired proprioception, Steppage gait, Decreased nerve conduction velocity, Inabili... ORPHA:101085
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Stereotypical hand wringing, Conductive hearing impairment, Dystonia, Choreoat... OMIM:618497
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal hea... ORPHA:247815
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Spinocerebellar Ataxia Type 18
Titubation, Gait ataxia, Hearing impairment, Head tremor, Somatic sensory dysfunction, Dysmetria ORPHA:98771
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Macrotia, Ataxia, Dysphagia... OMIM:617695
Huntington Disease-Like 3
Broad-based gait, Chorea, Dystonia, Progressive gait ataxia, Abnormal head movements ORPHA:157946
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c... ORPHA:206443
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Ataxia, Dystonia OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Bruxism, Tremor, Bilateral sensorineural hearing impairment, Dystonia, Ataxia, Dys... OMIM:619422
Adult-Onset Autosomal Dominant Leukodystrophy
Erectile dysfunction, Sensorineural hearing impairment, Impaired distal vibration sensation, Abno... ORPHA:99027
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Generalized dystonia, Inability to walk, Gait disturbance, Opis... ORPHA:216866
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Aggressive behavior OMIM:248510
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im... OMIM:601596
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Oromandibular dystonia, Inability to walk, Writer's cramp, Torticollis, Torsi... OMIM:128100
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Gait disturbance, Collectionism, EEG with continuou... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Gait disturbance, Stereotypical hand wringing, Macrotia... OMIM:614104
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Chorea, Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia, EE... ORPHA:500180
Christianson Syndrome
Truncal ataxia, Gait ataxia, Macrotia, Inappropriate laughter, Dystonia, Dysphagia, Motor stereotypy ORPHA:85278
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Impaired pain sensation, Hype... OMIM:182290
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Athetosis, Recurrent hand flapping, Dystonia, EEG abnormality OMIM:618141
Apert Syndrome
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Abnormal semicirc... ORPHA:87
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Anteverted ears, Recurrent han... ORPHA:544254
Developmental And Epileptic Encephalopathy 6B
Chorea, EEG with spike-wave complexes (>3.5 Hz), Dystonia, Ataxia, Motor stereotypy, Multifocal e... OMIM:619317
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Protruding ear, Hyperactivity, Sensorineural hearing impairment, Tremor, Low-set ears, Motor ster... OMIM:618342
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Gait disturbance, Dystonia, Disinhibition, Motor stereotypy, Restlessness... OMIM:600795
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Gait disturbance, Profound sensorineural hearing impairment, Self... OMIM:620469
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... OMIM:613670
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Branchiootorenal Syndrome 1
Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,... OMIM:113650
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia, Exaggerated st... OMIM:616881
Autism, Susceptibility To, 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608049
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Dysmetria, Gait ataxia OMIM:618090
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Intention tremor, Dystonia, Ataxia, Motor stereotypy, Motor tics, Attenti... OMIM:619725
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Chorea, Low-set ears, Impulsivity, Gait ataxia, Self-mutilation, Paroxysmal bursts... OMIM:620445
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Interictal EEG abnormality, EEG with frontal epileptiform discharg... ORPHA:363558
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior OMIM:301107
Foxg1 Syndrome
Difficulty walking, Inability to walk, Stereotypical hand wringing, Dystonia, Motor stereotypy, C... ORPHA:561854
Landau-Kleffner Syndrome
Hyperactivity, Impulsivity, Gait ataxia, EEG with frontal focal spikes, EEG with generalized epil... ORPHA:98818
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Hearing impairment, Macrotia, Motor stereotypy OMIM:619877
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Distal Deletion 10Q
Abnormality of the outer ear, Low-set ears, Cochlear malformation, Facial diplegia, Attention def... ORPHA:96148
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ataxia, Hearing impairment, Ataxia, ... OMIM:619580
Lopes-Maciel-Rodan Syndrome
Agitation, Tremor, Dystonia, Unsteady gait, Dysphagia, Motor stereotypy, Bruxism OMIM:617435
Spinocerebellar Ataxia Type 13
Limb ataxia, Optic atrophy, Difficulty walking, Torticollis, Impaired distal vibration sensation,... ORPHA:98768
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Resting tremor, Chorea, Titubation, Gait disturbance, Gait ataxia, Dystonia, ... ORPHA:225147
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Difficulty walking, Broad-based gait, Gait ataxia, Dystonia, Motor stereotypy, Pro... OMIM:617807
Developmental And Epileptic Encephalopathy 64
Inability to walk, Paroxysmal dystonia, Chorea, Macrotia, Dystonia, Motor stereotypy, Self-injuri... OMIM:618004
Juvenile Huntington Disease
Progressive cerebellar ataxia, Hyperactivity, Chorea, Gait ataxia, Dystonia, Ataxia ORPHA:248111
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Pain ... OMIM:600430
Ogden Syndrome
Torticollis, Low-set ears, Shuffling gait, Macrotia, Abnormal head movements ORPHA:276432
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Exaggerated startle response, Dys... ORPHA:309246
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Lennox-Gastaut Syndrome
Hyperactivity, Vertigo, EEG abnormality, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Developmental And Epileptic Encephalopathy 110
Chorea, Low-set ears, Macrotia, Pain insensitivity, Bruxism, Continuous spike and waves during sl... OMIM:620149
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Hypsarrhythmia, Prominent ear helix, Motor stereotypy, Large earlobe, Multifoc... ORPHA:411986
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
48,Xxyy Syndrome
Chronic otitis media, Azoospermia, Tremor, Infertility, Hypergonadotropic hypogonadism, Ataxia, M... ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Self-injurious behavior, EEG abnormality, Aggressive behavior OMIM:271980
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gait disturbance, Macrotia, Motor stereotypy, Self-mutilation ORPHA:457240
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Inability to walk, Hyperactivity, Abno... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Self-injurious behavior, Motor stereotypy OMIM:619690
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Impaired tactile sensation, Broad-bas... ORPHA:206448
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, Abnormality of visua... OMIM:617523
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Low-set ears, Compulsive behaviors, Repetitive compulsive behavior, Motor stereoty... ORPHA:352490
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Jerky head movements, Punding, EEG with spike-wave comp... ORPHA:64280
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
4Q21 Microdeletion Syndrome
Tremor, Low-set ears, Hearing impairment, Motor stereotypy, Self-injurious behavior ORPHA:238750
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, EEG with occipital epileptiform discharges, Head tremor, Ataxia, EEG with parieta... OMIM:619428
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Low-set ears, Compulsive behaviors, Ataxia, Posteriorly rotated ears, Motor stereo... OMIM:618430
X-Linked Adrenoleukodystrophy
Hyperactivity, Progressive hearing impairment, Impotence, Disinhibition, Attention deficit hypera... ORPHA:43
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Chorea, Optic nerve hypoplasia, Exaggerated startle response, Macrotia, EEG with generalized slow... OMIM:617864
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Waddling gait, Difficulty walking, Motor stereotypy ORPHA:280763
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Limb ataxia, Broad-based gait, Truncal ataxia, Low-set ears, Recurrent hand flapping, Self-injuri... OMIM:617101
Rett Syndrome, Congenital Variant
Tongue thrusting, Chorea, Athetosis, Dystonia, Motor stereotypy, Protruding ear, EEG abnormality,... OMIM:613454
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Ataxia, EEG abnormality ORPHA:411515
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Motor stereotypy OMIM:617393
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Inability to walk, Motor stereotypy OMIM:613443
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Abnormal pinna morphology, Tremor, Gait ataxia, Hypogonadism, Aggressive behavior OMIM:300354
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy, Broad-based gait OMIM:616351
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Dysdiadochokinesis, Abnormal cochlea morphology,... ORPHA:1435
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o... ORPHA:228402
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormalit... OMIM:610042
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity OMIM:609727
Gorham-Stout Disease
Hearing impairment, Torticollis, Abnormality of the internal auditory canal ORPHA:73
Radio-Tartaglia Syndrome
Tremor, Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairment, Ataxia, Dys... OMIM:619312
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Chorea, Low-set ears, Macrotia, Ataxia, Dysphagia, Pain insensitivity, Motor s... OMIM:300260
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggres... OMIM:301029
Ritscher-Schinzel Syndrome 4
Chorea, Athetosis, Impulsivity, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Aggressive behavior OMIM:619435
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Focal EEG discharges with secondary generalization, Abnormal fear-induced behavior, Res... ORPHA:3077
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Multifocal epileptiform discharges, Agitation, Hyperactivity, Low-set ears, Hearing impairment, M... ORPHA:369891
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Interictal epileptiform activity, Bilateral conductive hearing impairment, Low... OMIM:617802
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, Interictal epileptiform activity, EEG with irre... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Compulsive behaviors, Macrotia, Dysphagia, Pain insensitivity, Motor stereotypy, Attentio... OMIM:617061
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Attached earlobe, Microtia, Impulsivity, Dystonia, Ataxia, Aggressive behavior OMIM:616977
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Hearing impairment, Motor stereotypy, EEG abnormality OMIM:610883
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Athetosis, Titubation, Head tremor, Dystonic gait, Dystonia, Ataxia, EEG with... ORPHA:280219
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Motor stereotypy, Attention deficit hyperactivity... OMIM:617600
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... OMIM:618027
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Optic disc pallor, Exaggerated st... ORPHA:320406
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Motor stereotypy, Pain insensitivity, Attention deficit hyperactivity... OMIM:618825
Developmental And Epileptic Encephalopathy 103
EEG with polyspike wave complexes, EEG with burst suppression, Hyperactivity, Hypsarrhythmia, Ata... OMIM:619913
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Compulsive behaviors, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Dystonia, Motor stereotypy, Atte... ORPHA:261197
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy, Hypogonadism, Self-biting, Ag... ORPHA:3306
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Crouzon Syndrome
Hearing impairment, Conductive hearing impairment, Optic atrophy, Narrow internal auditory canal ORPHA:207
Cri-Du-Chat Syndrome
Optic atrophy, Difficulty walking, Hyperactivity, Stenosis of the external auditory canal, Abnorm... OMIM:123450
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy OMIM:618504
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Hypsarrhythmia, Recurrent hand flapping, Stereotypical hand wringing, Macrotia, St... OMIM:300912
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Adenylosuccinase Deficiency
Hyperactivity, Low-set ears, Gait ataxia, Inappropriate laughter, Opisthotonus, Self-mutilation, ... OMIM:103050
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hyperactivity, EEG with focal spikes, Interictal epileptiform activity,... ORPHA:163681
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Interictal epileptiform activity, EEG with focal spikes, Increased theta fre... ORPHA:98784
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tongue thrusting, Hyperactivity, Tremor, Recurrent hand flapping, Inappropriate laughter, Ataxia,... ORPHA:98794
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Sandifer Syndrome
Abnormal posturing, Abnormal head movements, Torticollis ORPHA:71272
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Hyperactivity, Chorea, Athetosis, Dystonia, Ataxia, Self-mutilation ORPHA:52503
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Low-set ears, Gait ataxia, Overfriendliness, Motor stereotypy OMIM:616579
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
13Q12.3 Microdeletion Syndrome
Chronic otitis media, Impaired pain sensation, Hyperactivity, Hearing impairment, Self-mutilation ORPHA:412035
Snijders Blok-Campeau Syndrome
Broad-based gait, Low-set ears, Unsteady gait, Motor stereotypy, Attention deficit hyperactivity ... OMIM:618205
Charge Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Abnormality of the inner ear, Aplasia/Hypoplasi... ORPHA:138
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster... OMIM:617751
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia, Motor stereotypy, Self-mutilation OMIM:300486
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressiv... OMIM:616393
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy, Abnormal speech di... ORPHA:397612
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Agitation, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Gait disturbanc... OMIM:617903
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Tremor, Absent brainstem auditory responses, Gait disturbance,... ORPHA:90321
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Spastic gait, Scissor gait, Truncal ataxia, Facial diplegia, Motor stereotypy, Attention deficit ... OMIM:619121
Noonan Syndrome
Sensorineural hearing impairment, Thickened helices, Low-set, posteriorly rotated ears, Aplasia o... ORPHA:648
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Congenital... ORPHA:500159
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Abnormal autonomic nervous system physiology, Impulsivity, Choking ... ORPHA:35069
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormal pinna morphology, Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Hypsarrhythmia, Sensorineural hearing impairment, Limb dystonia, EEG with fron... ORPHA:457351
22Q11.2 Duplication Syndrome
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:1727
Rett Syndrome
Agitation, Difficulty walking, Inability to walk, Abnormal autonomic nervous system physiology, G... ORPHA:778
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti... ORPHA:449291
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Ataxia, Motor stereotypy, Protruding ear, EEG abnormality ORPHA:2479
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Broad-based gait, Gait disturbance, Dystonia... OMIM:300352
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, Exaggerated startle response, Macrotia, EEG abnormality OMIM:617281
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Resting tremor, Abnormal auditory ... ORPHA:909
Bilateral Generalized Polymicrogyria
Oral-pharyngeal dysphagia, Oculogyric crisis, Dystonia, Motor stereotypy, Self-injurious behavior ORPHA:208447
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ... OMIM:617796
Smith-Magenis Syndrome
Chronic otitis media, Impaired pain sensation, Gait disturbance, Conductive hearing impairment, M... ORPHA:819
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Ataxia, Motor stereotypy, Attent... OMIM:300986
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Ataxia, Motor stereotypy, Abnormality of the outer ear, Attenti... ORPHA:435638
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Oromandibular dystonia, Microtia, Tremor, Compulsive behaviors, Hearing impairment, Posteriorly r... OMIM:620494
Transketolase Deficiency
Secondary amenorrhea, Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention defic... ORPHA:488618
Tay-Sachs Disease
Optic atrophy, Tremor, Exaggerated startle response, Hearing impairment, Dystonia, Dysphagia, Lar... ORPHA:845
Den Hoed-De Boer-Voisin Syndrome
Multifocal epileptiform discharges, Agitation, Inability to walk, Hypsarrhythmia, Tremor, Stereot... OMIM:619229
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Hyperactivity, Chorea, Dysdiadochokinesis, Impulsivity, Gait ataxia, Intention tre... OMIM:610217
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Synotia, Abnormal cranial nerve morphology, Low-set, posteriorly rotated ears, Narrow internal au... ORPHA:990
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear, Aggressive behavior OMIM:618914
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Torticollis, Sensorineural hearing impairment, Optic nerve hypoplasia, Bilater... ORPHA:300570
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Macrotia, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder OMIM:615656
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... ORPHA:313892
Phelan-Mcdermid Syndrome
Tongue thrusting, Broad-based gait, Impaired pain sensation, Hearing impairment, Macrotia, Unstea... OMIM:606232
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Loss of ambulation, Dysphagia, Motor stereotypy, Optic disc pallor ORPHA:79264
Chromosome 5P13 Duplication Syndrome
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... OMIM:613174
Angelman Syndrome
Optic atrophy, Tongue thrusting, Hyperactivity, Tremor, Recurrent hand flapping, Polyphagia, Dela... ORPHA:72
Unilateral Polymicrogyria
Abnormal posturing, Infantile sensorineural hearing impairment, Giant somatosensory evoked potent... ORPHA:268943
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
White-Sutton Syndrome
Hyperactivity, Sensorineural hearing impairment, Optic nerve hypoplasia, Bilateral sensorineural ... OMIM:616364
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Hijazi-Reis Syndrome
Motor stereotypy, Gait disturbance OMIM:301094
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, Chorea, EEG with focal sharp waves, Dystonia, Ataxia, EEG with ser... ORPHA:522077
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Dysphagia, Exaggerated startle response OMIM:617301
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy OMIM:620502
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Ataxia, Motor stereotypy ORPHA:927
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Sensorineural hearing impairment, Ataxia ORPHA:760
Sandhoff Disease
Orthostatic hypotension, Impaired temperature sensation, Impotence, Exaggerated startle response,... OMIM:268800
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Macrotia, Unsteady g... OMIM:212066
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Abnormal pinna mo... ORPHA:794
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Low-set ears, Exaggerated startle response, Gait ataxia, Ataxia OMIM:620451
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Sensorineural hearing impairmen... ORPHA:521426
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low-set ears, Unsteady gait, Ataxia, Motor stereotypy, Aggressive behavior ORPHA:457279
Gm2-Gangliosidosis, Ab Variant
Chorea, Dystonia, Exaggerated startle response OMIM:272750
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Macrotia, Dystonia, Ataxia, Dysphagia, Motor stereotypy ORPHA:496641
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Tick-Borne Encephalitis
Anorexia, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphology, Vertigo,... ORPHA:297
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Posteriorly rotated ears, Motor stereotypy, Overfriendliness, Attention deficit hyp... OMIM:619293
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Motor stereotypy ORPHA:261144
Distal Renal Tubular Acidosis
Polydipsia, Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Kleefstra Syndrome 1
Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Motor stereotypy, Aggressive... OMIM:610253
Vici Syndrome
Abnormal posturing, Sensorineural hearing impairment, Low-set ears, Dysphagia OMIM:242840
Brain-Lung-Thyroid Syndrome
Hyperactivity, Chorea, Sensorineural hearing impairment, Compulsive behaviors, Intention tremor, ... ORPHA:209905
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Hearing impairment, Ataxia, Dysphagia, Male hypogonadism, Dysmetria ORPHA:139396
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Compulsive behaviors, Gait ataxia, Motor stereotypy, Attention deficit hyperactivity diso... ORPHA:476126
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Low-set ears, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperac... OMIM:619103
47,Xyy Syndrome
Male infertility, Azoospermia, Hyperactivity, Low-set ears, Oligozoospermia, Impulsivity, Attenti... ORPHA:8
Rauch-Steindl Syndrome
Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy, Protruding ear, Aggre... OMIM:619695
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Motor stereotypy ORPHA:228384
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, EEG with spike-wave complexes, Low-set ears, Hearing impairment, EEG with g... ORPHA:369837
Developmental And Epileptic Encephalopathy 66
Motor stereotypy, Broad-based gait OMIM:618067
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Facial palsy,... OMIM:214800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
White-Sutton Syndrome
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Posteriorly... ORPHA:468678
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Hypsarrhythmia, Exaggerated startle response, Impulsivity, Dystonia, EE... OMIM:620423
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Impulsivity, Head titubation, Ataxia, EEG abnormality, Bruxism, Aggressive behavio... OMIM:619475
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Truncal ataxia, Small earlobe, Low-set ears, Gait ataxia, Ataxia, Posteriorly r... OMIM:617330
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hyperactivi... ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Macrotia, Prominent antihelix, Motor stereotypy OMIM:615802
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Conductive hearing impairment, Compulsive behaviors, Mo... ORPHA:1001
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Dysphagia OMIM:617527
Asparagine Synthetase Deficiency
Hypsarrhythmia, Optic nerve hypoplasia, Tremor, Exaggerated startle response, Macrotia, Simple ea... OMIM:615574
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te... OMIM:619575
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:620242
Pitt-Hopkins Syndrome
Gait ataxia, Motor stereotypy, Self-injurious behavior, Thickened helices, Cupped ear OMIM:610954
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Microtia, Bilateral sensorineural hearing impairment, Atresi... ORPHA:2306
Gm1 Gangliosidosis Type 1
Hearing impairment, Macrotia, Low-set ears, Exaggerated startle response ORPHA:79255
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Tremor, Dystonia, Ataxia, Choreoathetosis, Aggressive behavior OMIM:612716
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Chorea, Head-banging, Lingual dysto... ORPHA:2388
Cardiospondylocarpofacial Syndrome
Recurrent otitis media, Low-set ears, Fusion of middle ear ossicles, Conductive hearing impairmen... OMIM:157800
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Dysphagia, Motor stereotypy OMIM:607625
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Low-set ears, Gait ataxia, Attention deficit hyperactivity disor... OMIM:614756
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Kleefstra Syndrome
Chronic otitis media, Hearing impairment, Motor stereotypy, Self-injurious behavior, Thickened he... ORPHA:261494
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Joubert Syndrome 6
Ataxia, Motor stereotypy OMIM:610688
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Dysphagia, Motor stereotypy ORPHA:572013
Nmda Receptor Encephalitis
Orthostatic tachycardia, Agitation, EEG with temporal sharp slow waves, Orthostatic hypotension, ... ORPHA:217253
Legius Syndrome
Hyperactivity, Hearing impairment, Dystonia, Attention deficit hyperactivity disorder, Vestibular... ORPHA:137605
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, EEG with generalized slow activity, Inability to walk, Motor stereotypy OMIM:300672
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Hypsarrhythmia, Low-set ears, Dysphagia, Motor stereotypy, Protrudin... ORPHA:447997
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hyperactivity, Aggressive behavior ORPHA:401973
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Bainbridge-Ropers Syndrome
Inability to walk, Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Motor stereot... OMIM:615485
Early Infantile Epileptic Encephalopathy
EEG with spike-wave complexes, Hyperactivity, Hypsarrhythmia, Tremor, Uni- and bilateral multifoc... ORPHA:1934
Cystinosis
Polydipsia, Motor stereotypy, Gait disturbance ORPHA:213
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behavior... OMIM:619512
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Dysphagia, Motor stereotypy, Choreoathetosis, EEG with photoparoxysmal response OMIM:619777
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Sens... ORPHA:580
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Optic atrophy, Hyperactivity, Tremor, Blepharospasm, Phonic tics, Dys... OMIM:234200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormal... OMIM:619005
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Broad-based gait, Optic nerve hypoplasia, Polyphagia, Fixated interest... OMIM:620330
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Microtia, Low-set ears, Posteriorly rotated ears, Motor stereotypy OMIM:301040
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Abnormal Eustachian tube morphology, Broad-based gait, Gait ataxia, Stere... ORPHA:513456
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, EEG with parietal focal spikes, EEG with central focal spikes, EEG with o... OMIM:301066
Van Esch-O'Driscoll Syndrome
Protruding ear, Microtia, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder... OMIM:301030
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp... ORPHA:649
Wiedemann-Steiner Syndrome
Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Aggressive behavior ORPHA:319182
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Low-set ears, Overfolded helix, Motor stereotypy OMIM:618653
Arboleda-Tham Syndrome
Chronic otitis media, Optic atrophy, Recurrent otitis media, Gait imbalance, Small earlobe, Under... OMIM:616268
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Bilateral sensorineural hearing impair... ORPHA:468631
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Attention deficit hyperactivity disorder, Motor stereotypy, Protruding ear, Opt... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Gait disturbance, Macrotia, Motor stereotypy, Protruding ear, Optic disc pallor ORPHA:464306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Kinsship Syndrome
Bruxism, Low-set ears, Motor stereotypy OMIM:619297
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Low-set ears, Facial palsy, Polyphagia, Compulsive behaviors, Posteriorly rotated ... OMIM:615873
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Compulsive behaviors, Skin-picking, Motor stereotypy, Att... ORPHA:177907
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypsarrhythmia, Abnormal helix morphology, Abnormal cochlea morphology, Lo... ORPHA:798
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Hyperactivity, Low-set ears, Hearing impairment, Posteriorly rotated ears, Motor s... OMIM:309590
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Chordee, Posteriorly rotated... OMIM:619522
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Dysphagia, Exaggerated startle response OMIM:618367
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Compulsive behav... ORPHA:353281
1P36 Deletion Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Pol... ORPHA:1606
Primrose Syndrome
Superiorly displaced ears, Tics, Calcification of the auricular cartilage, Hypergonadotropic hypo... OMIM:259050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing impairment, Motor s... ORPHA:508498
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Inability to walk, Motor stereotypy ORPHA:508533
Coffin-Siris Syndrome 12
Protruding ear, Sensorineural hearing impairment, Low-set ears, Facial palsy, Posteriorly rotated... OMIM:619325
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypsarrhythmia, Posteriorly rotated ears, Motor stereotypy, EEG abnormality, Overfolded helix OMIM:301044
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Protruding ear, Low-set, posteriorly rotated ears, Azoospermia, Compulsive ... ORPHA:534
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Tremor, Low-set ears, Motor stereotypy, Simple ear, Protruding ... OMIM:612474
Ogden Syndrome
Recurrent otitis media, Torticollis, Low-set ears, Macrotia, Dysphagia, Motor stereotypy, Protrud... OMIM:300855
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353277
Wolf-Hirschhorn Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... OMIM:194190
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Stereotypical hand wringing, Dystonia, Dysphagia, Optic disc pallor ORPHA:438213
Mowat-Wilson Syndrome
Recurrent otitis media, Aganglionic megacolon, EEG with spike-wave complexes, Impaired pain sensa... ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy OMIM:616682
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Aganglionic megacolon, Inability to walk, Broad-based gait, Impaired pain... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Recurrent otitis media, Aganglionic megacolon, Inability to walk, Broad-based gait... ORPHA:261552
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, 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 Otog

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 Otog.

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

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
Otogtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Otogtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Otogem1(IMPC)J Exon Deletion Mice
Otogtm2a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Otogtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Otogtm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Otogtm2e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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