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Gene: Otog MGI:1202064

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Gene Summary

Name:
otogelin
Synonyms:
Otgn

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Otogem1(IMPC)J HOM   Early adult 4.73×10-12
increased circulating aspartate transaminase level Otogem1(IMPC)J HOM Early adult 0.00
decreased startle reflex Otogem1(IMPC)J HOM   Early adult 8.73×10-05
preweaning lethality, incomplete penetrance Otogem1(IMPC)J HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Eye Morphology

Images Slit Lamp

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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
Vestibular hypofunction, Sensorineural hearing impairment 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
Prelingual sensorineural hearing impairment, Positive Romberg sign, Abnormal vestibular function,... OMIM:616515
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... OMIM:609129
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Primary Dystonia, Dyt13 Type
Torsion dystonia, Limb dystonia, Torticollis, Jerky head movements, Postural tremor, Generalized ... ORPHA:98807
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Torticollis, Ataxia ORPHA:71518
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms, EEG abnormality OMIM:300425
Deafness, Autosomal Dominant 80
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... OMIM:619274
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, X-Linked 5, With Peripheral Neuropathy
Distal sensory impairment, Tinnitus, Unsteady gait, Abnormal middle ear reflexes, Hearing impairm... OMIM:300614
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Jerky head movements, Difficulty walking, Impaired proprioception, Impaired vibratio... ORPHA:251282
Autosomal Recessive Spastic Paraplegia Type 44
Somatic sensory dysfunction, Ataxia, Difficulty walking, Abnormal motor evoked potentials, Abnorm... ORPHA:320401
Chromosome 15Q11-Q13 Duplication Syndrome
Abnormal repetitive mannerisms, EEG abnormality, Unsteady gait, Truncal ataxia OMIM:608636
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Dis... OMIM:601382
Dystonia 31
Leg dystonia, Difficulty walking, Generalized dystonia, Writer's cramp, Abnormal posturing, Arm d... OMIM:619565
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms, EEG abnormality OMIM:607373
Autism
Abnormal repetitive mannerisms, EEG abnormality OMIM:209850
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Abnormal head movements, Athetosis, Chorea, Dystonia ORPHA:382
Pendred Syndrome
Enlarged vestibular aqueduct, Abnormality of the inner ear, Ataxia, Vertigo, Hypoplasia of the co... ORPHA:705
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Inability to walk OMIM:606053
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Mohr-Tranebjaerg Syndrome
Dystonia, Inability to walk, Absent brainstem auditory responses, Generalized dystonia, Focal dys... ORPHA:52368
Jeavons Syndrome
EEG with photoparoxysmal response, Interictal epileptiform activity, EEG with spike-wave complexe... ORPHA:139431
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Mohr-Tranebjaerg Syndrome
Tremor, Progressive sensorineural hearing impairment, Abnormal posturing, Postlingual sensorineur... OMIM:304700
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia ORPHA:231183
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Hypsarrhythmia, Inability to walk, Optic atrophy OMIM:617830
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... OMIM:617519
Usher Syndrome Type 1
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia ORPHA:231169
Deafness, Autosomal Dominant 9
Tinnitus, Vertigo, Abnormality of the vestibulocochlear nerve, Cochlear degeneration, Postlingual... OMIM:601369
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Broad-based gait OMIM:617862
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Abnormal pinna morphology, Tremor, Optic atrophy OMIM:300983
Charcot-Marie-Tooth Disease, Type 4D
Distal sensory impairment, Gait disturbance, Unsteady gait, Impaired distal vibration sensation, ... OMIM:601455
Fraxe Intellectual Disability
Hyperactivity, Agitation, Prominent ear helix, Recurrent hand flapping, Stereotypical body rockin... ORPHA:100973
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Bruxism, EEG abnormality, Chorea, Abnormal repetitive mannerisms, Dystonia OMIM:619150
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia, Broad-based gait OMIM:614063
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms OMIM:608631
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Low-set ears, Hyperactivity ORPHA:436151
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, EEG abnormality, Hyperactivity, Ataxia OMIM:239500
Optic Atrophy 8
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... OMIM:616648
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Posteriorly rotated ears, Gait ataxia, Macrotia, Abnormal repetitive... OMIM:609425
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Difficulty walking, Impaired vibration sensation in the lower limb... ORPHA:95433
Intellectual Developmental Disorder, Autosomal Recessive 58
Abnormal repetitive mannerisms, Pica, Choreoathetosis OMIM:617270
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms OMIM:617787
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... OMIM:125250
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... OMIM:303110
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Macrotia OMIM:300624
Huntington Disease-Like 1
Jerky head movements, Gait disturbance, EEG abnormality, Abnormal head movements, Chorea, Gait at... ORPHA:157941
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Inability to walk, Bruxism, EEG abnormality, Tremor, Abnormal repetitive mannerisms OMIM:618718
Pyruvate Dehydrogenase E2 Deficiency
Dystonia, Jerky head movements, Ataxia, Generalized dystonia, Choreoathetosis, Paroxysmal dystonia OMIM:245348
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Distal sensory impairment, Hypoplasia of the semicircular canal, Short-segment aganglionic megaco... OMIM:609136
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Hyperactivity OMIM:300271
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Ataxia, Tremor, Large fleshy ears, Gait ataxia, Abnormal repetitive mannerisms, Ove... OMIM:619092
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... OMIM:611584
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Somatic sensory dysfunction, Focal dystonia, Tremor, Dysphagia ORPHA:240103
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, EEG abnormality OMIM:617171
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Titubation, Hearing impairment, Head tremor, Gait ataxia, Dysmetria ORPHA:98771
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... ORPHA:90646
Autism, Susceptibility To, X-Linked 2
Abnormal repetitive mannerisms, EEG abnormality OMIM:300495
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Huntington Disease-Like 3
Dystonia, Abnormal head movements, Progressive gait ataxia, Chorea, Broad-based gait ORPHA:157946
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Abnormal repetitive mannerisms, Optic atrophy, Broad-based gait, Tremor OMIM:619470
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... OMIM:602588
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Abnormal repetitive mannerisms, EEG abnormality, Inability to walk OMIM:617820
Charcot-Marie-Tooth Disease Type 1F
Impaired pain sensation, Paresthesia, Limb ataxia, Somatic sensory dysfunction, Inability to walk... ORPHA:101085
Charcot-Marie-Tooth Disease, Type 4C
Distal sensory impairment, Abnormal cranial nerve morphology, Difficulty walking, Decreased motor... OMIM:601596
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Dysdiadochokinesis, Abnormal auditory evoked potentials, Abnormality ... ORPHA:99027
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Abnormal head movements, Progressive gait ataxia, Tru... ORPHA:247815
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Abnormal repetitiv... OMIM:618917
Baker-Gordon Syndrome
Ataxia, EEG abnormality, Abnormal repetitive mannerisms, Choreoathetosis, Dystonia OMIM:618218
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Hyperactivity DECIPHER:8
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Hyperactivity, Ataxia OMIM:615924
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Agitation, Recurrent hand flapping, Stereotypical body rocking, Compulsive behavio... OMIM:309548
Apert Syndrome
Morphological abnormality of the semicircular canal, Optic atrophy, Conductive hearing impairment... ORPHA:87
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Attention deficit hyperactivity disorder,... ORPHA:206443
Branchiootorenal Syndrome 1
Conductive hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibular a... OMIM:113650
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Hartnup Disorder
Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Macrotia, Abnormal repetitive manneri... OMIM:617695
New-Onset Refractory Status Epilepticus
EEG with generalized epileptiform discharges, EEG with frontal epileptiform discharges, EEG with ... ORPHA:363558
Abcd Syndrome
Aganglionic megacolon, Hearing impairment, Total intestinal aganglionosis, Neonatal death, Abnorm... OMIM:600501
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Inability to walk, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Faci... OMIM:128100
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Facial diplegia, Attention de... OMIM:617302
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Hyperactivity, Protruding ear, Bruxism, Attention deficit hyperactivity disorder, T... OMIM:618342
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Exaggerated startle response, Ataxia OMIM:616881
Christianson Syndrome
Dysphagia, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Truncal ataxia, Dystonia ORPHA:85278
Developmental And Epileptic Encephalopathy 6B
Ataxia, EEG with spike-wave complexes (>3.5 Hz), Chorea, Multifocal epileptiform discharges, Abno... OMIM:619317
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Inability to walk, Hearing impairment, Macrotia, Abnormal repetitive mannerisms OMIM:619877
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Intellectual Developmental Disorder, Autosomal Recessive 39
Abnormal repetitive mannerisms, Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Abnormal pinna morphology, Macrotia, Stereotypical hand wringing, Abnormal... OMIM:614104
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Tip-toe gait, Optic disc pallor, Generalized dystonia, Opist... ORPHA:216866
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Hyperactivity, EEG abnormality, Chorea, Dysphagia, Gait ataxia, Dystonia... ORPHA:500180
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Gait ataxia, Hyperactivity, Dysmetria OMIM:618090
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Xq28 (MECP2) duplication
Abnormal repetitive mannerisms, Gait ataxia, Inability to walk, Macrotia DECIPHER:45
Smith-Magenis Syndrome
Impaired pain sensation, Head-banging, Hyperactivity, EEG abnormality, Hearing impairment, Abnorm... OMIM:182290
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Attention deficit hyperactivity disorder, Motor tics, Chorea, Intention tremor, Resting t... OMIM:619725
Cln5 Disease
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Ataxia, EEG with focal ... ORPHA:228360
Ogden Syndrome
Low-set ears, Torticollis, Abnormal head movements, Macrotia, Shuffling gait ORPHA:276432
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Prominent antihelix, Dystonia, Difficulty walking, Gait ataxia, Abnormal repetitive mannerisms, O... OMIM:617807
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Spastic Tetraplegia And Axial Hypotonia, Progressive
Posteriorly rotated ears, Exaggerated startle response, Low-set ears, Ataxia OMIM:618598
Distal Deletion 10Q
Low-set ears, Unsteady gait, Protruding ear, Cochlear malformation, Ataxia, Facial diplegia, Abno... ORPHA:96148
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Foxg1 Syndrome
Inability to walk, Difficulty walking, Bruxism, Stereotypical hand wringing, Abnormal repetitive ... ORPHA:561854
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Inability to walk, Prominent ear helix, Multifocal epileptiform discharges, Large... ORPHA:411986
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Hyperactivity, Chorea, Gait ataxia, Dystonia ORPHA:248111
Developmental And Epileptic Encephalopathy 64
Inability to walk, Bruxism, Paroxysmal dystonia, Chorea, Macrotia, Abnormal repetitive mannerisms... OMIM:618004
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Titubation, Chorea, Gait ataxia, Abnormal posturing, Resting tremor, Dystonia ORPHA:225147
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Spinocerebellar Ataxia Type 13
Limb ataxia, Torticollis, Difficulty walking, Impaired distal vibration sensation, Optic disc pal... ORPHA:98768
Landau-Kleffner Syndrome
EEG with generalized epileptiform discharges, Hyperactivity, EEG with temporal focal spikes, Atte... ORPHA:98818
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Hyperactivity, Attention deficit hyperactivity disorder, Repetitive compulsive beha... ORPHA:352490
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Hearing impairment, Gait ataxia, Opisthotonus, ... OMIM:619580
Adult Krabbe Disease
Somatic sensory dysfunction, Gait disturbance, Ataxia, Broad-based gait, EEG abnormality, Acropar... ORPHA:206448
Lopes-Maciel-Rodan Syndrome
Agitation, Bruxism, Tremor, Dysphagia, Abnormal repetitive mannerisms, Dystonia OMIM:617435
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm... ORPHA:50815
48,Xxyy Syndrome
Chronic otitis media, Ataxia, Attention deficit hyperactivity disorder, Hypergonadotropic hypogon... ORPHA:10
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Dystonia, Head titubation, Absent brainstem auditory responses ORPHA:3240
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia OMIM:619260
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:613670
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Chorea, Exaggerated startle response, EEG with generalized slow activity,... OMIM:617864
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Difficulty walking, Waddling gait, Dystonia ORPHA:280763
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Gait disturbance, Macrotia, Tremor ORPHA:457240
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Sensorineural hearing impairment, Stereotypical hand wringing,... OMIM:600430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms, Low-set ears, Inability to walk OMIM:613443
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Abnormal repetitive mannerisms, Broad-based gait, Hearing impairment OMIM:616351
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms, Low-set ears, Tremor, Hearing impairment ORPHA:238750
Spinocerebellar Ataxia, Autosomal Recessive 30
Unsteady gait, Ataxia, Titubation, Tremor, Compulsive behaviors, Dysmetria OMIM:619405
Bor Syndrome
External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito... ORPHA:107
Gorham-Stout Disease
Torticollis, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Autism, Susceptibility To, 3
Abnormal repetitive mannerisms, EEG abnormality OMIM:608049
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Optic atrophy OMIM:619690
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Abnormal repetitive mannerisms OMIM:615282
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Tics, Posteriorly rotated ears, Attention deficit hy... OMIM:617808
Noonan Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the semicircular ... ORPHA:648
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Ataxia, EEG with occipital epileptiform discharges, Head tremor, EEG with parieta... OMIM:619428
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Hyperactivity, Ataxia, Posteriorly rotated ears, Abnormal repetitive mannerisms, Co... OMIM:618430
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves ... OMIM:301008
Rett Syndrome, Congenital Variant
Protruding ear, Bruxism, EEG abnormality, Athetosis, Chorea, Tongue thrusting, Abnormal repetitiv... OMIM:613454
Radio-Tartaglia Syndrome
Low-set ears, Conductive hearing impairment, Ataxia, Attention deficit hyperactivity disorder, He... OMIM:619312
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Difficulty walking, Dystonic gait, Titubation, Athetosis, Head tremor, Abnormality of som... ORPHA:280219
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Disinhibition, Abnormal repetitive mannerisms, Restlessness, Dystonia OMIM:600795
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor, Impaired vibration sensation in t... ORPHA:320406
Behavioral Variant Of Frontotemporal Dementia
Abnormal repetitive mannerisms, Gait disturbance, EEG with continuous slow activity, Collectionism ORPHA:275864
Potocki-Lupski Syndrome
Hyperactivity, EEG abnormality, Hearing impairment, Oral-pharyngeal dysphagia, Abnormal repetitiv... OMIM:610883
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, EEG with focal spike waves, Trem... ORPHA:1942
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Hyperactivity, Sensorineural hearing impairment OMIM:609727
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Hypogonadism, Abnormal pinna morphology, Tremor, Gait ataxia OMIM:300354
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Inability to walk, Interictal epileptiform activity, Abnormal repetitive mannerisms... OMIM:617802
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Inability to walk, Ataxia, Bruxism, Chorea, Pain insensitivity, Repetitive compulsi... OMIM:300260
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Ataxia, Stapes ankylosis, Bilateral sensorineural hearing impairme... ORPHA:1435
Ritscher-Schinzel Syndrome 4
Ataxia, Athetosis, Chorea, Dysphagia, Macrotia, Abnormal repetitive mannerisms, Impulsivity OMIM:619435
Crouzon Syndrome
Narrow internal auditory canal, Conductive hearing impairment, Optic atrophy, Hearing impairment ORPHA:207
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Chorea, Abnormal repetitive mannerisms, ... OMIM:617600
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Sensorineural hearing im... ORPHA:261197
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repeti... OMIM:610042
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Developmental And Epileptic Encephalopathy 103
Hypsarrhythmia, Hyperactivity, Ataxia, Opisthotonus, EEG with burst suppression, Continuous spike... OMIM:619913
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Jerky head movements, Punding ORPHA:64280
Chronic Bilirubin Encephalopathy
Hypernatremia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Neonatal hy... ORPHA:529799
Coffin-Siris Syndrome 7
Low-set ears, Hyperactivity, Posteriorly rotated ears, Hearing impairment, Recurrent otitis media... OMIM:618027
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Obsessive-compulsive trait, EEG with generalized slow activity... ORPHA:168491
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Somatic sensory dysfunction, Hyperactivity, Disinhibition, Attent... ORPHA:43
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Hyperactivity, Ataxia, Agitation, Restlessness, EEG abnormality, Overfriendliness, ... ORPHA:369891
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Abnormal repetitive mannerisms, Obsessive-compulsive trait, Attention deficit hyperactivity disor... OMIM:618825
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Attention deficit hyperactivity disorder, Pain insensitivity, Tremor, Dysphagia, Macrotia, Abnorm... OMIM:617061
Sandifer Syndrome
Abnormal head movements, Torticollis, Abnormal posturing ORPHA:71272
Lamb-Shaffer Syndrome
Abnormal repetitive mannerisms, Optic atrophy, Hyperactivity, Ataxia ORPHA:530983
Charge Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the semicircular canal, External ear malformatio... ORPHA:138
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, EEG abnormality, Hyperactivity, Ataxia ORPHA:411515
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Hyperactivity, Ataxia, EEG abnormality, Tremor, Dysphagia, Tongue thrus... ORPHA:98794
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Premature ovarian insufficiency, Hyperactivity, Macrotia ORPHA:391307
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
2Q23.1 Microdeletion Syndrome
Polyphagia, Abnormal repetitive mannerisms, Hyperactivity, Ataxia ORPHA:228402
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Macrotia OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Hyperactivity, Ataxia, Microtia, Dystonia, Impulsivity OMIM:616977
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Low-set ears, Overfriendliness, Gait ataxia, Abnormal repetitive mannerisms OMIM:616579
Cockayne Syndrome Type 1
Gait disturbance, Ataxia, Absent brainstem auditory responses, Difficulty walking, Hearing impair... ORPHA:90321
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Gait ataxia, Exaggerated startle response, Dysmetria OMIM:618056
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... OMIM:608643
Optic Atrophy-Intellectual Disability Syndrome
Protruding ear, Abnormal helix morphology, Attention deficit hyperactivity disorder, Optic nerve ... ORPHA:401777
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Hyperactivity, Recurrent otitis media, Sensorineural hearing impairment, Abnormal r... OMIM:617751
Megalocornea-Intellectual Disability Syndrome
Ataxia, Protruding ear, EEG abnormality, Sensorineural hearing impairment, Abnormal repetitive ma... ORPHA:2479
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Hyperactivity, Ataxia, Bruxism, Macrotia, Stereotypical hand wringing, Abnormal r... OMIM:300912
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Attention deficit hyperactivity disorder, Interictal epileptiform activity... ORPHA:98784
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Sensorineural hearing impairment, Congenital sensorineural hearing impair... ORPHA:500159
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, External ear malformation, Ataxia ORPHA:438216
Inverted Duplicated Chromosome 15 Syndrome
Abnormal repetitive mannerisms, Low-set, posteriorly rotated ears, Hyperactivity, Hypogonadism ORPHA:3306
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Anteverted ears, Microtia, first degree, Aplasia of th... OMIM:610706
Infantile Krabbe Disease
Hyperesthesia, Decreased nerve conduction velocity, Hearing impairment, Opisthotonus, Prolonged b... ORPHA:206436
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Abnormal repetitive mannerisms, Gait ataxia, Hyperactivity, Macrotia OMIM:300486
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia, Chorea ORPHA:309246
Pick Disease Of Brain
Polyphagia, Abnormal repetitive mannerisms, Disinhibition OMIM:172700
Snijders Blok-Campeau Syndrome
Abnormal repetitive mannerisms, Low-set ears, Unsteady gait, Broad-based gait OMIM:618205
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Hearing impairment, Anterior creases of earlobe, Abnorm... ORPHA:1727
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Low-set ears, Hyperactivity, Asymmetry of the ears, Sensorineural hea... OMIM:617796
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, EEG with burst suppression, Macrotia OMIM:615574
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Prominent crus of helix, Attention deficit hyperactivity disorder, Abnormality of ... OMIM:301013
3P25.3 Microdeletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Abnormality of the outer ear, Sensorineural hea... ORPHA:435638
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypsarrhythmia, Limb dystonia, Inability to walk, EEG abnormality, EEG with frontal sharp slow wa... ORPHA:457351
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Synotia, Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Narrow internal au... ORPHA:990
Infantile Neuroaxonal Dystrophy
Hyperactivity, Ataxia, Abnormal autonomic nervous system physiology, Abnormality of peripheral ne... ORPHA:35069
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Abnormal repetitive mannerisms, Dysphagia OMIM:612069
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Abnormal speech discrimination, EEG with generalized slow activity ORPHA:397612
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Aganglionic megacolon, Athetosis, Chorea, Dystonia ORPHA:52503
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Chronic otitis media, Hyperactivity, Hearing impairment ORPHA:412035
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Bilateral sensorineural hearing impairment, Attention deficit hypera... ORPHA:73272
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms OMIM:613886
16P11.2P12.2 Microdeletion Syndrome
Impaired pain sensation, Chronic otitis media, Low-set ears, Hyperactivity, Tics, Abnormal pinna ... ORPHA:261211
Rett Syndrome
Inability to walk, Gait disturbance, Difficulty walking, EEG abnormality, Abnormal autonomic nerv... ORPHA:778
Kohlschutter-Tonz Syndrome-Like
Hypsarrhythmia, Ataxia, Agitation, EEG abnormality, Posteriorly rotated ears, EEG with focal spik... OMIM:619229
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Torticollis, Inability to walk, Bilateral sensorineural hearing impairment, Abnorma... ORPHA:300570
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Chorea, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysphagia, Impulsivity,... OMIM:610217
Developmental And Epileptic Encephalopathy 49
Hyperactivity, EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compu... OMIM:615656
Alazami Syndrome
Abnormal repetitive mannerisms, Low-set ears, Stereotypical hand wringing ORPHA:319671
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms, Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia ORPHA:208447
Tay-Sachs Disease
Hearing impairment, Tremor, Exaggerated startle response, Dysphagia, Laryngeal dystonia, Optic at... ORPHA:845
Cri-Du-Chat Syndrome
Low-set ears, Difficulty walking, Abnormal pinna morphology, Hearing impairment, Stenosis of the ... OMIM:123450
Transketolase Deficiency
Attention deficit hyperactivity disorder, Hearing impairment, Abnormal repetitive mannerisms, Sec... ORPHA:488618
Dilated Cardiomyopathy With Ataxia
Ataxia, Bilateral sensorineural hearing impairment, Repetitive compulsive behavior, Action tremor... ORPHA:66634
Cntnap2-Related Developmental And Epileptic Encephalopathy
Stereotypical hand wringing, EEG with generalized epileptiform discharges, Hyperactivity, Ataxia,... ORPHA:163681
Smith-Magenis Syndrome
Impaired pain sensation, Chronic otitis media, Conductive hearing impairment, EEG abnormality, At... ORPHA:819
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Aganglionic megacolon, Abnormal repetitive mannerisms, Underfolded su... OMIM:300352
Phelan-Mcdermid Syndrome
Impaired pain sensation, Unsteady gait, Protruding ear, Bruxism, Hearing impairment, Tongue thrus... OMIM:606232
Saethre-Chotzen Syndrome
Low-set ears, Conductive hearing impairment, External ear malformation, Prominent crus of helix, ... ORPHA:794
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Tics, Ataxia, Tongue thrusting, Stereotypical body rocking, Pica OMIM:617865
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Sandhoff Disease
Ataxia, Exaggerated startle response, Impotence, Orthostatic hypotension, Impaired temperature se... OMIM:268800
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Cerebrotendinous Xanthomatosis
Somatic sensory dysfunction, Ataxia, Agitation, Optic neuropathy, Abnormal motor evoked potential... ORPHA:909
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Trunca... OMIM:619121
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Abnormal repetitive mannerisms, Low-set ears, Compulsive behaviors OMIM:613174
Brain-Lung-Thyroid Syndrome
Abnormal eating behavior, Hyperactivity, Ataxia, Chorea, Abnormal drinking behavior, Intention tr... ORPHA:209905
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Abnormal repetitive mannerisms, Ataxia, Agitation ORPHA:927
Developmental Delay, Language Impairment, And Ocular Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:620141
Adenylosuccinase Deficiency
Gait ataxia, Low-set ears, Opisthotonus, Hyperactivity OMIM:103050
Hydroxykynureninuria
Abnormal repetitive mannerisms, Congenital sensorineural hearing impairment ORPHA:79155
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Recurrent hand ... OMIM:300986
Shukla-Vernon Syndrome
Abnormal repetitive mannerisms, Broad-based gait OMIM:301029
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia, Chorea OMIM:272750
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response, Low-set ears, Optic atrophy OMIM:617301
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Loss of ambulation, Optic disc pallor, Interictal EEG abnormality ORPHA:79264
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms, Abnormal antihelix morphology, Protruding ear ORPHA:261144
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent otitis media, Macrotia, Abnorm... ORPHA:449291
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms, Optic atrophy, Dystonia ORPHA:496641
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Hypsarrhythmia, Low-set, posteriorly rotated ears, Exagg... ORPHA:521426
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Overfriendliness, Posteriorly rotated ears, Attention deficit hyperactivity disorde... OMIM:619293
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Sensorineural hearing impairment, Ataxia ORPHA:760
Short Stature, Developmental Delay, And Congenital Heart Defects
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:617044
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Abnormal posturing, Infantile sensorineural hearing impair... ORPHA:268943
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Unsteady gait, Posteriorly rotated ears, Macrotia, Sensorineural hearing impairment... OMIM:212066
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Jerky head movements, EEG with spike-wave complexes, EEG with generalized sharp slo... ORPHA:369837
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Ataxia, Hearing impairment, Dysphagia, Male hypogonadism, Dysmetria ORPHA:139396
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors, Abnormal pinna morphology, Hearing impairment OMIM:610253
Intellectual Developmental Disorder, Autosomal Dominant 38
Bruxism, Abnormal repetitive mannerisms, Low-set ears, Ataxia OMIM:616393
Vici Syndrome
Low-set ears, Abnormal posturing, Sensorineural hearing impairment OMIM:242840
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Intellectual Developmental Disorder, Autosomal Recessive 41
Abnormal repetitive mannerisms OMIM:615637
Tick-Borne Encephalitis
Tinnitus, Somatic sensory dysfunction, Abnormal cranial nerve morphology, Abnormality of the vest... ORPHA:297
Cockayne Syndrome A
Ataxia, Abnormal pinna morphology, Hypogonadism, Decreased nerve conduction velocity, Tremor, Irr... OMIM:216400
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, Ataxia, EEG abnormality, EEG with series of focal spikes, Chorea, ... ORPHA:522077
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms, Low-set ears, Unsteady gait, Ataxia ORPHA:457279
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms, Broad-based gait OMIM:618067
Mogs-Cdg
Optic atrophy, Dystonia, Sensorineural hearing impairment, Absent brainstem auditory responses ORPHA:79330
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Abnormal repetitive mannerisms, Cupped ear OMIM:618914
White-Sutton Syndrome
Low-set ears, Tics, Bilateral sensorineural hearing impairment, Posteriorly rotated ears, Optic n... OMIM:616364
47,Xyy Syndrome
Low-set ears, Hyperactivity, Attention deficit hyperactivity disorder, Azoospermia, Male infertil... ORPHA:8
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Hyperlysinemia
Hypoplasia of the antihelix, EEG with spike-wave complexes, Hyperactivity, Hypoplastic helices, T... ORPHA:2203
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Tremor, Gait ataxia, Abnormal repetitive mannerisms, Co... ORPHA:476126
Developmental And Speech Delay Due To Sox5 Deficiency
Abnormal repetitive mannerisms, Optic atrophy, Attention deficit hyperactivity disorder ORPHA:313892
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Exaggerated startle response, Macrotia, Dystonia ORPHA:79255
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Abnormal repetitive mannerisms, Low-set ears, Attention deficit hyperactivity disorder, Head-banging OMIM:619103
Charge Syndrome
Low-set ears, Lop ear, Mixed hearing impairment, Facial palsy, Cupped ear, Sensorineural hearing ... OMIM:214800
Hypotonia, Ataxia, And Delayed Development Syndrome
Low-set ears, Ataxia, Broad-based gait, Posteriorly rotated ears, Pain insensitivity, Gait ataxia... OMIM:617330
Cockayne Syndrome B
Ataxia, Abnormal pinna morphology, Decreased nerve conduction velocity, Tremor, Abnormal auditory... OMIM:133540
Trisomy 10P
Low-set ears, Abnormality of the ear, Low voltage EEG, EEG with focal spikes, Posteriorly rotated... ORPHA:171929
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Prominent crus of helix, Protruding ear, Abnormal repetitive man... OMIM:619695
2Q37 Microdeletion Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Conductive hearing impa... ORPHA:1001
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Enlarged vestibular aqueduct, Posteriorly rotated ea... OMIM:157800
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Polyphagia, Low-set, posteriorly rotated ears, Chronic otitis med... ORPHA:96121
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Posteriorly rotated ears, Dysphagia, Exaggerated startle response, Optic atrophy OMIM:617527
Niemann-Pick Disease, Type C2
Dysphagia, Abnormal repetitive mannerisms, Dystonia, Ataxia OMIM:607625
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment, Atresia of the e... ORPHA:2306
Pitt-Hopkins Syndrome
Abnormal repetitive mannerisms, Gait ataxia, Cupped ear, Thickened helices OMIM:610954
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
White-Sutton Syndrome
Hyperactivity, EEG abnormality, Posteriorly rotated ears, Abnormality of the outer ear, Sensorine... ORPHA:468678
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms, Hypsarrhythmia, Inability to walk, EEG with generalized slow acti... OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Prominent antihelix, Macrotia OMIM:615802
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms OMIM:618347
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Agitation, Bruxism, EEG abnormality, Hearing impairment, Cupped ear, Abnormal rep... OMIM:619475
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Hyperactivity, Ataxia, Blepharospasm, Phonic tics, Motor tics, Tremor... OMIM:234200
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Hand tremor, Protruding ear, Ataxia, Hyperactivity, Posteriorly rotated ears, Atten... OMIM:614756
Nmda Receptor Encephalitis
EEG with temporal sharp slow waves, Agitation, Oculogyric crisis, Abnormal autonomic nervous syst... ORPHA:217253
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Hyperactivity OMIM:620242
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Recurrent otitis media, Sen... OMIM:619575
Bainbridge-Ropers Syndrome
Low-set ears, Inability to walk, Posteriorly rotated ears, Abnormal repetitive mannerisms, Recurr... OMIM:615485
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:572013
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Recurrent otitis media, Gait ataxia, Abnormal repetitive manneris... ORPHA:513456
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Chorea, Dysphagia, Gait ataxia, Abnormal repetitive mannerisms... OMIM:619777
Kleefstra Syndrome
Abnormal repetitive mannerisms, Chronic otitis media, Thickened helices, Hearing impairment ORPHA:261494
Choreoacanthocytosis
Head-banging, Limb dystonia, Hyperactivity, Blepharospasm, Bruxism, Decreased amplitude of sensor... ORPHA:2388
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Posteriorly rotated ears, Sensorineural hearing impairment, Abnormal repetitive man... OMIM:301040
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Hypsarrhythmia, Hyperactivity, Protruding ear, Dysphagia, Abnormal repetitive manne... ORPHA:447997
Cystinosis
Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Early Infantile Epileptic Encephalopathy
Hypsarrhythmia, EEG with spike-wave complexes, Hyperactivity, EEG abnormality, Uni- and bilateral... ORPHA:1934
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe... OMIM:619005
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Hyperactivity, Posteriorly rotated ears, Macrotia, Sensorineural hearing impairment... OMIM:619512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:253800
Van Esch-O'Driscoll Syndrome
Protruding ear, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Microti... OMIM:301030
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, EEG with occipital focal spikes, EEG wi... OMIM:301066
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Hyperactivity, Papilledema, Decreased nerve conduction velocity, O... ORPHA:580
Legius Syndrome
Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hearing impairmen... ORPHA:137605
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Overfolded helix, Low-set ears, Difficulty walking OMIM:618653
Arboleda-Tham Syndrome
Prominent antihelix, Prominent antitragus, Chronic otitis media, Low-set ears, Underdeveloped tra... OMIM:616268
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Thin ear helix, Bilateral sensorineural hearing impairment, Op... ORPHA:468631
Norrie Disease
Protruding ear, Abnormal helix morphology, EEG abnormality, Abnormal cochlea morphology, Macrotia... ORPHA:649
Wiedemann-Steiner Syndrome
Dysphagia, Abnormal repetitive mannerisms, Low-set ears, Hyperactivity ORPHA:319182
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal repetitive mannerisms, Gait disturbance, Optic disc pallor, Protruding ear ORPHA:464311
Kinsship Syndrome
Bruxism, Abnormal repetitive mannerisms, Low-set ears OMIM:619297
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Posteriorly rotated ears, Attention deficit hyperactivity disorder, Dysphagia, Exag... OMIM:619522
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Protruding ear, Optic disc pallor, Macrotia, Abnormal repetitive mannerisms ORPHA:464306
Helsmoortel-Van Der Aa Syndrome
Polyphagia, Low-set ears, Hyperactivity, Bruxism, Posteriorly rotated ears, Attention deficit hyp... OMIM:615873
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Hyperactivity, Protruding ear, Posteriorly rotated ears, Hearing impairment, Cupped... OMIM:309590
Schinzel-Giedion Syndrome
Low-set ears, Hypsarrhythmia, Abnormal helix morphology, Infantile sensorineural hearing impairme... ORPHA:798
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Prader-Willi Syndrome Due To Translocation
Head-banging, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hypogonad... ORPHA:177907
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal optic disc morphology, Optic nerve hypoplasia, Hearing impairment, Facial palsy, Abnorma... ORPHA:508498
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Opisthotonus, Inability to walk ORPHA:508533
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypsarrhythmia, EEG abnormality, Posteriorly rotated ears, Abnormal repetitive mannerisms, Overfo... OMIM:301044
Coffin-Siris Syndrome 12
Prominent antihelix, Low-set ears, Overfolding of the superior helices, Protruding ear, Posterior... OMIM:619325
1P36 Deletion Syndrome
Polyphagia, Low-set, posteriorly rotated ears, Conductive hearing impairment, Hypogonadism, EEG a... ORPHA:1606
Primrose Syndrome
Ataxia, Restlessness, Calcification of the auricular cartilage, Tics, Attention deficit hyperacti... OMIM:259050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Hyperactivity, EEG abnormality, Sensorineural hearing impairment, ... ORPHA:353281
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Low-set, posteriorly rotated ears, Protruding ear, EEG abnormality, Attenti... ORPHA:534
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Protruding ear, Tremor, Sensorineural hearing impairment, Simple ear, Abnormal repe... OMIM:612474
Ogden Syndrome
Low-set ears, Torticollis, Protruding ear, Recurrent otitis media, Macrotia, Abnormal repetitive ... OMIM:300855
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Abnormal pinna morphology, EEG abnormality, Stenosis of the extern... OMIM:194190
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Conductive hearing impairment, Hyperactivity, EEG abnormality, Sensorineural hearin... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Conductive hearing impairment, Hyperactivity, EEG abnormality, Sensorineural hearin... ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Dysphagia, Exaggerated startle response, Stereotypical hand wringing, Dystonia ORPHA:438213
Mowat-Wilson Syndrome
Impaired pain sensation, Uplifted earlobe, Oligomenorrhea, Conductive hearing impairment, EEG wit... ORPHA:2152
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms, Loss of ambulation, Unsteady gait OMIM:616682
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Impaired pain sensation, Uplifted earlobe, Inability to walk, Bruxism, EEG abnormality, Posterior... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Impaired pain sensation, Uplifted earlobe, Inability to walk, Bruxism, EEG abnormality, Posterior... ORPHA:261552
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms 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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