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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
preweaning lethality, incomplete penetrance Otogem1(IMPC)J HOM   Early adult 0.00
abnormal auditory brainstem response Otogem1(IMPC)J HOM   Early adult 1.90×10-12
increased circulating aspartate transaminase level Otogem1(IMPC)J HOM   Early adult 8.89×10-05

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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 Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Lateral Orientation

11 Images

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X-ray

XRay Images Forepaw

11 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 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
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
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Bab... ORPHA:101007
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Jerky h... ORPHA:251282
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Ataxia, Cochlear degeneration OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Episodic Ataxia Type 4
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo ORPHA:79136
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Hyperactivity, Abnormality of extrapyramidal motor function, Chorea, Athetosis, Progressi... ORPHA:382
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... OMIM:619565
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Myoclonus, Ataxia OMIM:159800
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Absent brainstem auditory responses, Sensorineural hearing impairment, Po... ORPHA:52368
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Tremor, Spasticity, Dystonia, Progressive sensorine... OMIM:304700
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, EEG abnormality, Jerky head mo... ORPHA:157941
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia OMIM:617830
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk OMIM:606053
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Spas... ORPHA:95433
Huntington Disease-Like 3
Broad-based gait, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormality of ext... ORPHA:157946
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Abnormal pinna morphology, Hyperactivity, Optic atrophy, Tremor, Spasticity OMIM:300983
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Ataxia, Abnormal cochlea morphology ORPHA:231183
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Falls, Chorea, Paroxysmal dyskinesia OMIM:619150
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Ataxia, Abnormal cochlea morphology ORPHA:231169
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, EEG with focal epileptiform discharges, Chorea, EEG with general... ORPHA:88616
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito... OMIM:601455
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia OMIM:245348
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Gait disturbance, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progres... OMIM:125250
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dyst... OMIM:615924
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity OMIM:239500
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia, Unsteady gait OMIM:614063
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Upper motor ... ORPHA:206443
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Absent brainstem auditory responses, Ataxia, Hypoplasia of the semicircular canal, S... OMIM:609136
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... OMIM:618598
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, EEG abnormality, Involuntary movements, Spasticity OMIM:617820
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Impotence, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor,... ORPHA:99027
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, EEG abnormality, Dystonia, Chorea OMIM:618760
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Progressive ... ORPHA:247815
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... OMIM:618218
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, EEG abnormality, Tremor, Spasticity, Low-set ears OMIM:618718
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Hyperkinetic movements, Optic atrophy, Macroti... OMIM:617302
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Motor stereotypy, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... OMIM:617695
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Spinocerebellar Ataxia Type 18
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Hearing impairment ORPHA:98771
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis OMIM:619470
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Tongue fascic... OMIM:601596
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Absent brainstem auditory responses, Sensorineural hearing impairment, I... ORPHA:101085
Fragile X Syndrome
Recurrent hand flapping, Hyperactivity, Abnormal head movements, Macrotia OMIM:300624
Adult Krabbe Disease
Broad-based gait, Hemiplegia, Ataxia, Acroparesthesia, Clumsiness, EEG abnormality, Hoffmann sign... ORPHA:206448
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Hyperactivity, Dysmetria OMIM:618090
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Difficulty walking, Spasticity OMIM:617393
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Hypertonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Spinocerebellar Ataxia Type 36
Ataxia, Dysmetria, Limb ataxia, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... ORPHA:276198
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia OMIM:617113
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity DECIPHER:8
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity... OMIM:618917
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Babinski ... ORPHA:225147
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... ORPHA:544254
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Hyperactivity, Bradykinesia, Myoclonus, Rigidity, Chorea, ... ORPHA:248111
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Hypsarrhythmia OMIM:616341
Abcd Syndrome
Neonatal death, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impa... OMIM:600501
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... OMIM:619317
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Opisthotonus, Gait disturbance, Frequent falls, Optic disc pallo... ORPHA:216866
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... ORPHA:3095
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity, Impaired vibratory sensation, Babinski sign, Spa... OMIM:609727
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Hyperactivity, Abnormality of extrapyramidal motor function, Limb hypertonia, Ab... ORPHA:500180
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn... ORPHA:87
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... OMIM:617807
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality OMIM:300495
Cln5 Disease
EEG with focal spikes, Ataxia, Poor gross motor coordination, Hyperactivity, Clumsiness, Dysmetri... ORPHA:228360
Snijders Blok-Campeau Syndrome
Broad-based gait, Motor stereotypy, Speech apraxia, Unsteady gait, Low-set ears OMIM:618205
Spinocerebellar Ataxia Type 13
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Optic atrophy, Titubation, Impaire... ORPHA:98768
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Abnormal pinna morphology, Hyperactivity, Stereotypical hand wringing, ... OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Hyperactivity, Macrotia OMIM:615541
Distal Monosomy 10Q
Facial diplegia, Ataxia, Cochlear malformation, Protruding ear, Congenital sensorineural hearing ... ORPHA:96148
Xq28 (MECP2) duplication
Motor stereotypy, Inability to walk, Progressive spasticity, Gait ataxia, Macrotia DECIPHER:45
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Hyperactivity, Tremor, Attent... OMIM:618342
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Stereotypical hand wringi... ORPHA:561854
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Hypsarrhythmia ORPHA:500545
Christianson Syndrome
Motor stereotypy, Truncal ataxia, Gait ataxia, Macrotia, Dystonia ORPHA:85278
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... ORPHA:363558
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Gait disturbance, Dystonia OMIM:600795
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Ogden Syndrome
Torticollis, Hypertonia, Shuffling gait, Abnormal head movements, Macrotia, Low-set ears ORPHA:276432
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Inability to walk, Myoclonus, Hypsarrhythmi... ORPHA:411986
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Dysto... ORPHA:280219
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Spastic tetraplegia, Head titubation ORPHA:3240
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Gait disturbance, EEG with continuous slow activity, Fasciculations, Upper moto... ORPHA:275864
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... ORPHA:352490
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Poor coordination OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Hyperactivity, Dysmetria, Babinski sign, Spasticity, Hypsarrhythmia, Clonus, Low... OMIM:617773
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, EEG w... ORPHA:98818
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Multifocal epileptiform discha... ORPHA:505652
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Hyperactivity, Hearing impairment, Morphological abnormality o... OMIM:182290
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Macrotia, Upper limb spasticity ORPHA:457240
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hyperactivity, Impotence, Progressive hearing impairment, Hemiparesis, S... ORPHA:43
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
48,Xxyy Syndrome
Motor stereotypy, Infertility, Ataxia, Hypergonadotropic hypogonadism, Chronic otitis media, Trem... ORPHA:10
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... OMIM:619580
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Ataxia, Conductive hearing impairment, Dilata... ORPHA:1435
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Opisthotonus, EEG with polyspike wave complexes, Continuous spike and wave... OMIM:619913
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Recurrent hand flapping, Macrotia OMIM:617268
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spa... ORPHA:363400
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flapping OMIM:620021
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Hyperactivity, Cerebral palsy, Myoclonus, Chorea, Atte... OMIM:617600
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Abnormal auditory evok... OMIM:619260
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Optic atrophy, Opt... ORPHA:320406
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity, Macrotia OMIM:618504
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... OMIM:201050
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Low-set ears, Hearing impairment ORPHA:238750
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Optic disc drusen, Eye poking OMIM:204000
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, EEG with ir... ORPHA:1942
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder OMIM:613670
Rasmussen Subacute Encephalitis
EEG with focal spikes, Hyperactivity, Hemidystonia, Continuous spike and waves during slow sleep,... ORPHA:1929
Gorham-Stout Disease
Torticollis, Hearing impairment, Abnormality of the internal auditory canal ORPHA:73
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... ORPHA:206436
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... ORPHA:261197
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Optic atrophy OMIM:619690
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Hyperactivity, E... ORPHA:168491
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Spasticity OMIM:610042
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, EEG abnormality, Hyperactivity, Hyperkinetic movements OMIM:271980
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abnormal pinna morphology, Hyperactivity, Tremor, Gait ataxia, Hypogonadism OMIM:300354
Rett Syndrome, Congenital Variant
Motor stereotypy, Protruding ear, EEG abnormality, Tongue thrusting, Chorea, Athetosis, Spasticit... OMIM:613454
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Pain insensitivity, Inability to walk, Rigidity, Chorea, Progressive sp... OMIM:300260
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... OMIM:272750
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Posteriorly rotated ears, Recurrent hand flapping OMIM:615032
Unilateral Polymicrogyria
Pseudobulbar paralysis, Poor fine motor coordination, Infantile sensorineural hearing impairment,... ORPHA:268943
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Jerky head movements, Punding, Limb myoclonus ORPHA:64280
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hypertonia, Ataxia, Hyperactivity, Spastic paraparesis, Cerebra... ORPHA:760
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Hearing impairment, Motor stereotypy OMIM:616351
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Continuous spike and waves during slow sleep, Head tremor, EEG with occ... OMIM:619428
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Low-set, posteriorly rotated ears, Attention def... OMIM:617808
Noonan Syndrome
Thickened helices, Sensorineural hearing impairment, Aplasia of the semicircular canal, Low-set, ... ORPHA:648
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Optic atrophy, Upper motor neuron dysfunction ORPHA:530983
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, Chorea, ... ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Inability to walk, Bilateral conductive hearing impairment, Low-set ears, Inter... OMIM:617802
Autosomal Recessive Spastic Paraplegia Type 75
Dysmetria, Impaired vibratory sensation, Babinski sign, Abnormal pyramidal sign, Temporal optic d... ORPHA:459056
Rett Syndrome
Motor stereotypy, Inability to walk, Bradykinesia, EEG abnormality, Abnormal autonomic nervous sy... ORPHA:778
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, EEG with focal spikes, Interictal epileptiform activity, Increased theta freque... ORPHA:98784
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Abnormal pyramidal sign, Optic atrophy, Hearing impairment, Tetraplegia ORPHA:369939
Tay-Sachs Disease
Clumsiness, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Poor fine motor coordina... ORPHA:845
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Parkinsonism, Myo... ORPHA:79264
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Resting tremor, Parkinsonism, Tremor, Focal EEG discharges with secondary generali... ORPHA:3077
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Myopathy With Extrapyramidal Signs
Ataxia, Clumsiness, Hyperactivity, Abnormality of extrapyramidal motor function, Chorea, Frequent... OMIM:615673
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Hemiparesis, Limb myoclonus, Aprax... ORPHA:139396
Sandifer Syndrome
Torticollis, Abnormal head movements, Abnormal posturing ORPHA:71272
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal ORPHA:207
Radio-Tartaglia Syndrome
Large earlobe, Conductive hearing impairment, Ataxia, Motor stereotypy, Tremor, Hearing impairmen... OMIM:619312
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Hyperactivity, Spasticity ORPHA:457260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Limb hypertonia, Bab... OMIM:608643
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Hyperactivity, Progressive cerebellar ataxia, Myoclonus, Chorea, Upper lim... ORPHA:485350
Autism, Susceptibility To, 3
Motor stereotypy, EEG abnormality OMIM:608049
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Gait ataxia, Impaired pain sensation, Incoordination, Low-set ears OMIM:616579
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Premature ovarian insufficiency, Macrotia ORPHA:391307
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Gait disturbance, Tremor, Difficulty walking, Optic ... ORPHA:90321
Potocki-Lupski Syndrome
Motor stereotypy, Hearing impairment, EEG abnormality, Hyperactivity OMIM:610883
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, EEG abnormality, Hyperactivity ORPHA:411515
Coffin-Siris Syndrome 7
Motor stereotypy, Low-set ears, Recurrent otitis media, Hyperactivity, Macrotia, Hearing impairme... OMIM:618027
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the ear, EEG abnormality, Oromotor apraxia, Hypoplastic helices, Attention deficit... ORPHA:391372
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, EEG abnormality, Recurrent hand flapping, Hyperactivity, Myoclonus, Tongue thrusting, EEG... ORPHA:98794
X-Linked Creatine Transporter Deficiency
Hypertonia, Ataxia, Hyperactivity, Aganglionic megacolon, Chorea, Athetosis, Dystonia ORPHA:52503
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Motor stereotypy, Hyperactivity, Recurrent otitis media, Low-se... OMIM:617751
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Hyperactivity, Gait ataxia, Spasticity, Macrotia OMIM:300486
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity, Poor fine motor coordination OMIM:617182
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Hypertonia, Motor stereotypy, Aganglionic megacolon, Underfolded superior helic... OMIM:300352
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Hyperactivity, Bradykinesia, Dysmetria, Intention tremor, Dysdiadochokinesis, Babinsk... OMIM:610217
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Motor stereotypy, Ataxia, EEG abnormality, Protruding ear ORPHA:2479
Cerebrotendinous Xanthomatosis
Paraparesis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conducti... ORPHA:909
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Facial diplegia, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hy... OMIM:619121
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Pain insensitivity, Attention deficit hyperactivity disorder OMIM:618825
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Recurrent hand flapping, Hemidystonia, Tremor, Speech apraxia, Attention deficit hyp... OMIM:619680
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia OMIM:619435
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Pain insensitivity, Overfolded helix, Tremor, Attention deficit hyperactivity d... OMIM:617061
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Sensorineural hearing impairment, Motor stereotypy, Inability to walk, Spastic ataxi... ORPHA:300570
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... ORPHA:500159
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, EEG abnormality, Hyperactivity, Spastic paraparesis, Multifocal epileptiform discharges, ... ORPHA:369891
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity, Low-set, posteriorly rotated ears, Hypogonadism ORPHA:3306
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
D-Glyceric Aciduria
Sensorineural hearing impairment, Opisthotonus, Optic nerve hypoplasia, Myoclonus, Tongue thrusti... OMIM:220120
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Pro... ORPHA:35069
Optic Atrophy-Intellectual Disability Syndrome
Protruding ear, Abnormal helix morphology, Optic nerve hypoplasia, Optic atrophy, Attention defic... ORPHA:401777
Sandhoff Disease
Ataxia, Upper motor neuron dysfunction, Impotence, Exaggerated startle response, Orthostatic hypo... OMIM:268800
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Inability to walk, EEG abnormality, EEG with focal spike waves, Multifo... OMIM:619229
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Hyperactivity, Cerebral palsy, Stereotypical hand wringing, EEG wi... ORPHA:163681
Rett Syndrome
EEG abnormality, Gait apraxia, Truncal ataxia, Stereotypical hand wringing, Gait ataxia, Spastici... OMIM:312750
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Motor stereotypy, Inability to walk, EEG abnormality, EEG with ... ORPHA:457351
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Hyperactivity ORPHA:228402
Adenylosuccinase Deficiency
Hyperactivity, Opisthotonus, Myoclonus, Gait ataxia, Spasticity, Low-set ears OMIM:103050
Intellectual Developmental Disorder, Autosomal Dominant 43
Ataxia, Hyperactivity, Microtia, Attached earlobe, Dystonia OMIM:616977
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping, Hypsarrhythmia OMIM:618916
Charge Syndrome
Hypoplasia of the semicircular canal, Microtia, Overfolded helix, Facial palsy, External ear malf... ORPHA:138
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Motor stereotypy, Ataxia, Attention deficit hyperactivity disor... ORPHA:435638
Asparagine Synthetase Deficiency
Hypsarrhythmia, Exaggerated startle response, Spastic tetraplegia, Macrotia OMIM:615574
Developmental And Epileptic Encephalopathy 68
Myoclonus, Exaggerated startle response, Spasticity, Clonus OMIM:618201
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Stenosis of the external auditory canal,... OMIM:123450
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Oculogyric crisis, Eyelid myoclonus, Chorea, Spasticity, Dystonia ORPHA:178469
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... OMIM:610706
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Optic atrophy, Repetitive compulsive behavior, Lower limb spasticity, Dyst... ORPHA:66634
Tick-Borne Encephalitis
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Facial palsy, ... ORPHA:297
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Motor stereotypy, EEG with generalized slow activity ORPHA:397612
Hydroxykynureninuria
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment ORPHA:79155
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Ankle clonus, Babinski sign, Spastic paraplegia, Optic atrophy, Opt... OMIM:609541
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Optic atrophy, Spasticity, Macrotia,... ORPHA:496641
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Ste... OMIM:300912
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Pain insensitivity, Hyperactivity OMIM:600430
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, External ear malformation, Exaggerated startle response ORPHA:438216
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... OMIM:301013
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Synotia, Low-set, posteriorly rotated ears, Narrow internal au... ORPHA:990
13Q12.3 Microdeletion Syndrome
Hearing impairment, Impaired pain sensation, Hyperactivity, Chronic otitis media ORPHA:412035
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Hyperactivity, Poor coordination, Spasticity, Low-set ears, Posteriorly rotated ears OMIM:618430
Shukla-Vernon Syndrome
Broad-based gait, Motor stereotypy OMIM:301029
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hyperactivity, Pre... ORPHA:73272
Alazami Syndrome
Motor stereotypy, Low-set ears, Stereotypical hand wringing ORPHA:319671
Vici Syndrome
Sensorineural hearing impairment, Low-set ears, Abnormal posturing OMIM:242840
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Hyperactivity, Spasticity OMIM:300958
22Q11.2 Duplication Syndrome
Motor stereotypy, Hearing impairment, Attention deficit hyperactivity disorder, Anterior creases ... ORPHA:1727
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Leber Congenital Amaurosis 2
Optic disc pallor, Eye poking OMIM:204100
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Hyperactivity, Low-set ears, Posteriorly rotated ears OMIM:601853
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, EEG with multifocal slow activity, Stereotypical hand wringing ORPHA:289266
Hyperlysinemia
Clumsiness, Hyperactivity, EEG with spike-wave complexes, Opisthotonus, Dysmetria, Spastic dipleg... ORPHA:2203
16P11.2P12.2 Microdeletion Syndrome
Abnormal pinna morphology, Hyperactivity, Chronic otitis media, Hearing impairment, Tics, Impaire... ORPHA:261211
Brain-Lung-Thyroid Syndrome
Sensorineural hearing impairment, Ataxia, Clumsiness, Hyperactivity, Intention tremor, Myoclonus,... ORPHA:209905
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Recurrent hand flapping, Tongue thrusting ORPHA:411511
Bilateral Generalized Polymicrogyria
Motor stereotypy, Oculogyric crisis, Eyelid myoclonus, Spasticity, Spastic tetraplegia, Paroxysma... ORPHA:208447
Smith-Magenis Syndrome
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Chronic otitis media, Attention... ORPHA:819
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, EEG abnormality, EEG with spike-wave complexes, EEG with series of foca... ORPHA:522077
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, B... ORPHA:794
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Motor stereotypy, Hyperactivity, Asymmetry of the ears, Low-set... OMIM:617796
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Low-set ears OMIM:613174
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Broad-based gait, EEG abnormality, EEG with focal epileptiform discharges, Tongue... ORPHA:98795
Phelan-Mcdermid Syndrome
Broad-based gait, Motor stereotypy, Protruding ear, Macrotia, Tongue thrusting, Impaired pain sen... OMIM:606232
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Cupped ear, Cerebral palsy OMIM:618914
Transketolase Deficiency
Motor stereotypy, Hearing impairment, Secondary amenorrhea, Attention deficit hyperactivity disorder ORPHA:488618
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Protruding ear, Motor stereotypy ORPHA:261144
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Recurrent otitis media OMIM:301076
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping, Attention deficit hyperactivity di... OMIM:300986
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Unsteady gait OMIM:615516
Intellectual Developmental Disorder, Autosomal Dominant 51
Attention deficit hyperactivity disorder, Tics, Recurrent hand flapping, Recurrent otitis media OMIM:617788
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Glycine Encephalopathy With Normal Serum Glycine
Hypertonia, Exaggerated startle response, Optic atrophy, Clonus, Low-set ears OMIM:617301
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Blepharospasm, Hyperactivity, Bradykinesia, Abnormality of extrapyramidal motor function,... OMIM:234200
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Attention defic... ORPHA:449291
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Exaggerated startle response, Abnormality of extrapyramidal mot... ORPHA:521426
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Paralysis ORPHA:18
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Hypertonia, Motor stereotypy, Unsteady gait, Macrotia, Posterio... OMIM:212066
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Paraplegia, Ataxia ORPHA:927
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping OMIM:613192
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Low-set ears, Motor stereotypy, Posteriorly rotated ears OMIM:619293
Cockayne Syndrome A
Sensorineural hearing impairment, Ataxia, Abnormal pinna morphology, Decreased nerve conduction v... OMIM:216400
Hyperekplexia 1
Frequent falls, Hypertonia, Myoclonus, Exaggerated startle response OMIM:149400
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Low-set ears, Ataxia, Unsteady gait ORPHA:457279
Angelman Syndrome
Ataxia, EEG abnormality, Recurrent hand flapping, Hyperactivity, Delayed menarche, Myoclonus, Ton... ORPHA:72
Angelman Syndrome
EEG abnormality, Clumsiness, Hyperactivity, Progressive gait ataxia, Limb tremor OMIM:105830
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia ORPHA:228384
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy OMIM:615637
White-Sutton Syndrome
Sensorineural hearing impairment, Motor stereotypy, Optic nerve hypoplasia, Tics, Waddling gait, ... OMIM:616364
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Babinski sign, Prominent antihelix, Spasticity, Macrotia OMIM:615802
Distal Xq28 Microduplication Syndrome
Stereotypical body rocking, Absent antihelix, Tip-toe gait, Microtia ORPHA:293939
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, EEG with spike-wave complexes, Jerky head movements, EEG with generalized sharp slo... ORPHA:369837
Kleefstra Syndrome 1
Motor stereotypy, Hearing impairment, Abnormal pinna morphology OMIM:610253
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Motor stereotypy, Ataxia, Pain insensitivity, Dysmetria, Overfolded helix, Trun... OMIM:617330
Trisomy 10P
EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... ORPHA:171929
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Hyperactivity, Low-set, posteriorly rotated ears OMIM:615873
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Optic atrophy, Attention deficit hyperactivity disorder ORPHA:313892
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Inability to walk, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity OMIM:300672
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hypertonia, Exaggerated startle response, Babinski sign, Abnormal pyramidal sign, Rigidity, Optic... OMIM:617527
Cockayne Syndrome B
Sensorineural hearing impairment, Ataxia, Abnormal pinna morphology, Decreased nerve conduction v... OMIM:133540
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617044
X-Linked Intellectual Disability, Cabezas Type
EEG abnormality, Hyperactivity, Tremor, Hypogonadism, Abnormal earlobe morphology ORPHA:85293
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Low-set ears, Ataxia OMIM:616393
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Decerebrate rigidity, Spasticity, Macrotia, Hearing i... ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Spasticity OMIM:618367
Pitt-Hopkins Syndrome
Motor stereotypy, Cupped ear, Gait ataxia, Incoordination, Thickened helices OMIM:610954
Intellectual Developmental Disorder, Autosomal Dominant 22
Low-set ears, Abnormal pinna morphology, Stereotypical hand wringing OMIM:612337
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Tremor, Gait ataxia, Attention deficit hyperactivity disorder ORPHA:476126
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Protruding ear, Hyperactivity, Myoclonic spasms, Hypsarrhythmia, Cl... ORPHA:447997
Rauch-Steindl Syndrome
Motor stereotypy, Protruding ear, Hyperactivity, Attached earlobe, Prominent crus of helix OMIM:619695
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, Optic atrophy ORPHA:79330
Charge Syndrome
Sensorineural hearing impairment, Low-set ears, Aplasia of the semicircular canal, Microtia, Cupp... OMIM:214800
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Rigidity, Myoclonic spasms, Frequent falls OMIM:184850
Isotretinoin-Like Syndrome
Microtia, Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Bi... ORPHA:2306
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Abnormal autonomic nervous system physiology, Orthostatic hypoten... ORPHA:217253
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Otitis media, Falls, Tics, Spasticity, Hypsarrhythmia, Broad-based gait... OMIM:619475
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Ataxia, Protruding ear, Hyperactivity, Poor gross motor coordination, Hand trem... OMIM:614756
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Low-set ears, Attention deficit hyperactivity disorder OMIM:619103
47,Xyy Syndrome
Hyperactivity, Oligospermia, Male infertility, Attention deficit hyperactivity disorder, Azoosper... ORPHA:8
Galloway-Mowat Syndrome 6
Motor stereotypy OMIM:618347
White-Sutton Syndrome
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, Hyperactivity, Incoordinatio... ORPHA:468678
2Q37 Microdeletion Syndrome
Motor stereotypy, Conductive hearing impairment, Attention deficit hyperactivity disorder ORPHA:1001
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dystonia OMIM:607625
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Congenital sensorineural hearing impairment, Enlarged vestibular a... OMIM:157800
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Stereotypical hand wringing OMIM:619854
7Q11.23 Microduplication Syndrome
Large earlobe, Motor stereotypy, Hyperactivity, Dysmetria, Overfolded helix, Chronic otitis media... ORPHA:96121
Tay-Sachs Disease
Hypertonia, Exaggerated startle response OMIM:272800
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Recurrent hand flapping, Low-set ears, Posterior... OMIM:615485
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Protruding ear, Recurrent hand flapping, Microtia, Cupped ear, Low-set ears OMIM:156200
Early Infantile Epileptic Encephalopathy
EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Myoclonus, EEG with burst suppress... ORPHA:1934
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response ORPHA:3198
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Eye poking OMIM:608553
Choreoacanthocytosis
Laryngeal dystonia, Chorea, Limb dystonia, Slurred speech, Hypertonia, Hyperactivity, Resting tre... ORPHA:2388
Legius Syndrome
Hyperactivity, Vestibular schwannoma, Attention deficit hyperactivity disorder, Hearing impairmen... ORPHA:137605
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Motor stereotypy ORPHA:213
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Sensorineural hearing impairment, Motor stereotypy, Microtia, Spasticity, Low-set ears, Posterior... OMIM:301040
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Tongue thrusting ORPHA:77299
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Motor stereotypy, Stereotypical body rocking, Abnormal Eustachian tube morpholo... ORPHA:513456
Mend Syndrome
Low-set ears, Hyperactivity, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Kleefstra Syndrome
Thickened helices, Hearing impairment, Motor stereotypy, Chronic otitis media ORPHA:261494
Joubert Syndrome 1
Ataxia, Hyperactivity, Optic disc coloboma, Hemifacial spasm, Optic disc pallor, Oculomotor aprax... OMIM:213300
Dpagt1-Cdg
Hypertonia, Ataxia, Inability to walk, Akinesia, Diffuse optic disc pallor, Stereotypical body ro... ORPHA:86309
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, EEG with photoparoxysmal response, Myoclonus, Chorea, Choreoathetosis, Gait ataxia OMIM:619777
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Thin ear helix, Optic nerve hypoplasia, Abnormal pyramidal sign, Hy... ORPHA:468631
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Motor stereotypy, Attention deficit hyperactivity disorder, Rec... OMIM:619575
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Stereotypical body rocking, Microtia, Tongue thrusting, Recurrent otitis media, Lo... ORPHA:261323
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder OMIM:619005
Mgat2-Cdg
Stereotypical hand wringing, Low-set, posteriorly rotated ears, Prominent antihelix, Hypsarrhythm... ORPHA:79329
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Protruding ear, Microtia, Unilateral vocal cord paralysis, Hypogonadotropic hyp... OMIM:301030
Cardiofaciocutaneous Syndrome 1
Large earlobe, Low-set ears, Hypertonia, Tongue thrusting, Optic nerve dysplasia, Anterior crease... OMIM:115150
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Hemiparesis, Tongue thrusting, Underdeveloped superior crus of antihelix, Heari... ORPHA:369950
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Thickened helices, Ataxia, Spastic diplegia, Limb hypertonia, Cerebral palsy, Stereotypical hand ... OMIM:619950
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, EEG with parietal focal spikes, EEG with occipital focal spikes, Recurrent otit... OMIM:301066
Norrie Disease
Sensorineural hearing impairment, Hypertonia, Protruding ear, Motor stereotypy, Abnormal helix mo... ORPHA:649
Bainbridge-Ropers Syndrome
Hypertonia, Inability to walk, Recurrent hand flapping ORPHA:352577
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Sensorineural hearing impairment, Motor stereotypy, Hyperactivity, Optic atrophy, Macrotia, Low-s... OMIM:619512
Arboleda-Tham Syndrome
Prominent antitragus, Gait imbalance, Motor stereotypy, Lower limb hypertonia, Chronic otitis med... OMIM:616268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Low-set ears, Protruding ear, Hyperactivity, Poor coordination, Spastic diplegi... OMIM:309590
Schinzel-Giedion Syndrome
Large earlobe, Hypertonia, Abnormal helix morphology, Infantile sensorineural hearing impairment,... ORPHA:798
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overfolded helix, Low-set ears, Difficulty walking, Motor stereotypy OMIM:618653
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Motor stereotypy, Conductive hearing impairment, ... ORPHA:580
Kinsship Syndrome
Spastic tetraparesis, Low-set ears, Motor stereotypy, Myoclonus OMIM:619297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Optic disc pallor, Protruding ear, Motor stereotypy ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Protruding ear, Gait disturbance, Optic disc pallor, Macrotia ORPHA:464306
Wiedemann-Steiner Syndrome
Motor stereotypy, Low-set ears, Hyperactivity ORPHA:319182
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity OMIM:620047
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Parkinsonism, Repetitive compulsive behavior OMIM:607485
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, EEG abnormality, Overfolded helix, Hypsarrhythmia, Spastic tetrapar... OMIM:301044
Pyruvate Carboxylase Deficiency
Ataxia, Recurrent hand flapping, Tip-toe gait, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:3008
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Chordee, Exaggerated startle response, Microtia, Small earlobe, Attention defic... OMIM:619522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus ORPHA:508533
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing i... ORPHA:508498
1P36 Deletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, EEG abnormalit... ORPHA:1606
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Hypertonia, Ataxia, Protruding ear, Stereotypical hand wringing, Gait disturban... ORPHA:268261
Coffin-Siris Syndrome 12
Large earlobe, Sensorineural hearing impairment, Protruding ear, Motor stereotypy, Facial palsy, ... OMIM:619325
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Stereotypical hand wringing OMIM:619179
Primrose Syndrome
Motor stereotypy, Ataxia, Calcification of the auricular cartilage, Hypergonadotropic hypogonadis... OMIM:259050
Ogden Syndrome
Torticollis, Hypertonia, Protruding ear, Motor stereotypy, Macrotia, Recurrent otitis media, Low-... OMIM:300855
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Protruding ear, EEG abnormality, Chronic otitis media, Low-set, posteriorly rot... ORPHA:534
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder ORPHA:177907
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Unsteady gait OMIM:616682
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Motor... OMIM:194190
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, EEG abnormalit... ORPHA:353281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Myoclonus, Stereotypical hand wringing, Optic disc pallor, Involunt... ORPHA:438213
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, EEG abnormalit... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, EEG abnormalit... ORPHA:353277
Mowat-Wilson Syndrome
Sensorineural hearing impairment, Uplifted earlobe, Ataxia, Conductive hearing impairment, Broad-... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Sensorineural hearing impairment, Uplifted earlobe, Broad-based gait, Inability to walk, Motor st... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Sensorineural hearing impairment, Uplifted earlobe, Broad-based gait, Inability to walk, Motor st... ORPHA:261552
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, EEG abnormality, Tip-toe gait, Stereotypical body rocking, Macrotia, Chronic ot... OMIM:619503
Tuberous Sclerosis Complex
Attention deficit hyperactivity disorder, Hyperactivity, Repetitive compulsive behavior ORPHA:805
Lowe Oculocerebrorenal Syndrome
Motor stereotypy OMIM:309000

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for 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.

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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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