Gene Summary

Name:
pejvakin
Synonyms:
LOC381375,  pejvakin,  Dfnb59

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Pjvkem1(IMPC)J HOM   Early adult 6.89×10-08
decreased prepulse inhibition Pjvkem1(IMPC)J HOM Early adult 1.32×10-18
hyperactivity Pjvkem1(IMPC)J HOM Early adult 4.41×10-06
decreased startle reflex Pjvkem1(IMPC)J HOM   Early adult 3.26×10-05
head bobbing Pjvkem1(IMPC)J HOM Early adult 3.22×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

13 Images

Electroretinography 3

Fundus file

13 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

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

7 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Involuntary movements, Jerky head movements, Torticollis, Focal dyston... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Developmental And Epileptic Encephalopathy 56
Poor coordination, Ataxia, EEG abnormality, Broad-based gait, Attention deficit hyperactivity dis... OMIM:617665
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Autism
EEG abnormality, Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Stereotypy, Inability to walk, Spastic diplegia OMIM:617830
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:613608
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia OMIM:616657
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Chorea, Paroxysmal dyskinesia, Falls, Stereotypy, Ataxia, EEG abnorm... OMIM:619150
Autosomal Dominant Spastic Ataxia Type 1
Dystonia, Babinski sign, Jerky head movements, Spastic gait, Spastic dysarthria, Lower limb spast... ORPHA:251282
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Chorea, Inability to walk, Stereotypical hand wringing, EEG abnormality OMIM:618760
Smith-Magenis syndrome
Hyperactivity, Stereotypy DECIPHER:8
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Spasticity ORPHA:99852
Immunodeficiency 8
Hyperactivity OMIM:615401
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Low-set, posteriorly rotated ears, Lower limb spasticity, Exaggerated startle resp... OMIM:618598
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality ORPHA:436151
Hyperprolinemia, Type I
Hyperactivity, Ataxia, EEG abnormality, Stereotypy OMIM:239500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Phonic tics, Motor tics OMIM:137580
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Mohr-Tranebjaerg Syndrome
Dystonia, Optic atrophy, Babinski sign, Abnormality of somatosensory evoked potentials, Oromandib... ORPHA:52368
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Spastic parapa... ORPHA:206443
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Hyperactivity, Stereotypical body rocking, Recurrent hand flapping ORPHA:100973
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progres... OMIM:125250
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fasciculations, Tremor... OMIM:611302
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform disch... ORPHA:88616
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Spasticity, Stereotypy OMIM:617393
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Atypical Rett Syndrome
Involuntary movements, Dystonia, Gait disturbance, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
Jeavons Syndrome
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... ORPHA:139431
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Giant somatosensory evoked po... OMIM:607876
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Stereotypy OMIM:616341
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Hyperactivity, Ataxia, Oculomotor apraxia, Spasticity OMIM:612716
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, EEG abnormality, Spasticity OMIM:618718
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia, Spasticity OMIM:300983
Adult Krabbe Disease
Clumsiness, Gait disturbance, Acroparesthesia, Babinski sign, Hoffmann sign, Frequent falls, Prog... ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination OMIM:617182
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairm... OMIM:617519
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Macrotia, Stereotypy OMIM:615541
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... OMIM:601596
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired ... OMIM:619092
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Multifocal epileptiform discharges, Ata... OMIM:619317
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal auditory evoked potentials, Abnormal pyramidal sign, Gait distu... ORPHA:99027
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, EEG with generalized slow activity, Tremor,... ORPHA:228360
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Jerky head movements, Frequent falls, Dysmet... ORPHA:157941
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movement... ORPHA:382
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Oculogyric crisis, Bradykinesia, Hypertonia, Broad-based gait, Parkins... OMIM:617384
Huntington Disease-Like 3
Dystonia, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, Extrapyr... ORPHA:157946
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia... ORPHA:248111
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Impaired pain sensation, Steppage gait, Hand tremor, Optic ... ORPHA:101085
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing, Spasticity, Gait at... OMIM:618917
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis OMIM:604317
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Macrotia, Stereotypy, Ataxia, Inability to walk, Broad-based gait, Spasticity,... OMIM:617695
Chromosome 3Q29 Deletion Syndrome
Macrotia, Posteriorly rotated ears, Stereotypy, Hyperactivity, Gait ataxia OMIM:609425
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Stereotypy OMIM:600795
Lennox-Gastaut Syndrome
Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity, EEG abnormality ORPHA:2382
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Hypsarrhythmia, Spasticity ORPHA:500545
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Hypertonia, Exaggerated startle response ORPHA:163985
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, EEG w... ORPHA:275864
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Focal EEG discharges with secondary generalization, Shuffling gait, Lower limb spasticity, Tremor... ORPHA:3077
Episodic Ataxia Type 4
Ataxia, Abnormal head movements, Incoordination, Frequent falls ORPHA:79136
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Tetraplegia, Hyperactivity, Hypertonia, Lethargy OMIM:274270
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... ORPHA:276198
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Babinski sign, Spastic dysarthria, Stereotypy, Waddling gait, Spasticity, Progressive s... ORPHA:280763
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Chorea, Abnormality of extrapyramidal motor function, Hyperactivity, I... ORPHA:500180
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Frequent falls, Steppage gait, EEG with generalized epileptiform ... ORPHA:98818
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing, Hypsarrhythmia OMIM:616056
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperactivity, Ataxia, H... OMIM:617302
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Exaggerated start... ORPHA:320406
Cdkl5-Deficiency Disorder
Gait disturbance, Impaired pain sensation, Multifocal epileptiform discharges, Stereotypical hand... ORPHA:505652
Foxg1 Syndrome
Dystonia, Choreoathetosis, Myoclonus, Stereotypy, Inability to walk, Hyperkinetic movements, Ster... ORPHA:561854
Glycine Encephalopathy
Hyperactivity, Myoclonus, Lethargy OMIM:605899
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... ORPHA:1215
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia, Stereotypy OMIM:618504
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Speech apraxia, Stereotypy OMIM:613670
Autism, Susceptibility To, 3
EEG abnormality, Stereotypy OMIM:608049
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Abnormality of pain sensation, Macrotia, Tremor, Ataxia, Rec... ORPHA:544254
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, Hemidystonia, Involuntary movements, EEG with focal ep... ORPHA:1929
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 68
Clonus, Myoclonus, Exaggerated startle response, Spasticity OMIM:618201
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, EEG with series of focal spikes, EEG with photoparoxysmal response, Myoclonus, ... ORPHA:168491
Rett Syndrome
Dystonia, Gait disturbance, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... ORPHA:778
Mental Retardation, Autosomal Recessive 61
Babinski sign, Posteriorly rotated ears, Hyperactivity, EEG abnormality, Spasticity OMIM:617773
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy OMIM:618906
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Paroxysmal dystonia, Involuntary movements, Interictal... ORPHA:98784
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Pitt-Hopkins-Like Syndrome 1
Stereotypy, Hyperactivity, Ataxia, EEG abnormality, Spasticity OMIM:610042
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Stereotypy OMIM:612069
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, ... ORPHA:247815
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Spastic tetraplegia, Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... ORPHA:352490
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Myoclonus, Hypsarrhythmia, Stereotypy, Multifocal epileptifor... ORPHA:411986
Snijders Blok-Campeau Syndrome
Unsteady gait, Speech apraxia, Broad-based gait, Stereotypy OMIM:618205
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Macrotia, Abnormality of the pinna, Stereotypy, Hyperactivity, Ataxia, Incoordi... OMIM:614104
Fragile X Syndrome
Hyperactivity, Abnormal head movements, Macrotia OMIM:300624
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Limb tremor, Tongue thru... OMIM:608643
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Chorea, Exaggerated startle response, Spastic tetraparesis, Hypertonia, Abno... OMIM:272750
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abno... ORPHA:363400
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Macrotia, Stereotypy, Tremor, Hyperkinetic movements ORPHA:457240
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Optic atrophy, Abnormality of the pinna, Stereotypy, Spasticity, Unsteady gait, Gait at... OMIM:617807
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Optic disc pallor, Myoclonic spasms, Poor motor coordination, Stereotypy, Loss of abi... ORPHA:79264
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Sensorineural hearing impair... OMIM:609727
Xq28 (MECP2) duplication
Progressive spasticity, Macrotia, Stereotypy, Inability to walk, Gait ataxia DECIPHER:45
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy OMIM:301029
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Exaggerated startle response, Progressive spastic quadriplegia, Abnormal pyrami... ORPHA:309246
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with occipital epileptiform discharges, Head tremor, Hypsarrhythmia, Stereotypy, Ataxia, Cont... OMIM:619428
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking, Rigidity ORPHA:3198
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Abnormal head movements, EEG with generalized epilepti... ORPHA:363558
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Hyperactivity, Ataxia, EEG abnormality, EEG ... ORPHA:98794
Christianson Syndrome
Dystonia, Macrotia, Stereotypy, Truncal ataxia, Gait ataxia ORPHA:85278
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, EEG abnormality, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Hearing impairment, Stereotypy,... OMIM:619580
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, EEG abnormality, Hyperkinetic movements OMIM:271980
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Spasticity, Broad-based gait, Hearing impairment ORPHA:457260
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, Hypertonia, Hypsarrhythmia OMIM:618916
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Babinski sign, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hypera... OMIM:610217
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Hypertonia, Tics, Broad-based gait, Unsteady gait OMIM:617865
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Recurrent hand flapping OMIM:615516
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Optic atrophy, Clonus, Choreoathetosis, Frequent falls, Chorea, Abnormality... OMIM:615673
Lamb-Shaffer Syndrome
Optic atrophy, Stereotypy, Hyperactivity, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Childhood Absence Epilepsy
Jerky head movements, Limb myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Punding, Attent... ORPHA:64280
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Myoclonus, Lower limb spasticity, Progressive cerebellar ataxia, H... ORPHA:485350
Morm Syndrome
Hyperactivity ORPHA:75858
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Bilateral Generalized Polymicrogyria
Dystonia, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity, O... ORPHA:208447
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Macrotia, EEG abnormality OMIM:617268
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Hyperekplexia 1
Hypertonia, Myoclonus, Exaggerated startle response, Frequent falls OMIM:149400
Cntnap2-Related Developmental And Epileptic Encephalopathy
Interictal epileptiform activity, Cerebral palsy, EEG with generalized epileptiform discharges, L... ORPHA:163681
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity OMIM:618342
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, O... ORPHA:35069
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Tetraplegia, Hyperactivity, Abnormal pyramidal sign ORPHA:369939
Tay-Sachs Disease
Clumsiness, Optic atrophy, Gait disturbance, Dystonia, Progressive spasticity, Frequent falls, Dy... ORPHA:845
Infantile Krabbe Disease
Optic atrophy, Opisthotonus, Myoclonus, Hyperesthesia, Decreased nerve conduction velocity, Lower... ORPHA:206436
Cerebrotendinous Xanthomatosis
Parkinsonism, Dystonia, Gait disturbance, Optic disc pallor, Optic atrophy, Abnormal auditory evo... ORPHA:909
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Tongue thrusting, Ataxia, EEG abnormality, Broad-based gait, Recurrent hand flapping ORPHA:411511
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Gait disturbance, Clumsiness, Paralysis, Paraparesis, Progressive... ORPHA:43
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears, Stereotypy, Tics, Attention def... OMIM:617808
Pick Disease Of Brain
Stereotypy OMIM:172700
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Facial diplegia, Dysmetria, Spastic gait, Spastic tetraplegia, Stere... OMIM:619121
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Gait imbalance, Tongue thrusting, EEG abnormality, Broad-... ORPHA:98795
Mental Retardation, Autosomal Dominant 40
Stereotypy, Gait ataxia, Impaired pain sensation OMIM:616579
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
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Impaired pain sensation, Hearing impairment, Stereot... OMIM:182290
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric crisis ORPHA:178469
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Aganglionic megacolon, Chorea, Hyperactivity, Ataxia, Hypertonia ORPHA:52503
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy ORPHA:529799
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Spastic tetraplegia, Se... OMIM:609136
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hearing impair... ORPHA:139396
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Intellectual Developmental Disorder, Autosomal Dominant 34
Stereotypy, Broad-based gait, Hearing impairment OMIM:616351
4Q21 Microdeletion Syndrome
Stereotypy, Tremor, Hearing impairment ORPHA:238750
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dystonia, Optic atrophy, Rigidity, Eyelid apraxia, Choreoathetosi... OMIM:234200
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Repetitive compulsive behavior, EEG abnormality, Spasticity, Attention deficit ... ORPHA:391372
Intellectual Developmental Disorder, X-Linked 107
Abnormality of superior crus of antihelix, Macrotia, Hyperactivity, Prominent crus of helix, Atte... OMIM:301013
Rett Syndrome, Congenital Variant
Athetosis, Dystonia, Chorea, Tongue thrusting, Stereotypy, EEG abnormality, Apraxia, Spasticity, ... OMIM:613454
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscl... ORPHA:166108
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Sensorineural hearing impairment, Hyperactivity, Hypertonia, Ataxia, Spasticity, ... ORPHA:760
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Macrotia, Lower limb spasticity, Stereotypy, Repetitive... OMIM:300260
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, EEG with series of focal spikes, Choreoathetosis, Chorea, Stereotypy, Repetitive compul... ORPHA:522077
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Spasticity, Broad-based gait, Hearing impairment OMIM:300958
Potocki-Lupski Syndrome
Stereotypy, Hyperactivity, EEG abnormality, Hearing impairment OMIM:610883
Coffin-Siris Syndrome 7
Hyperactivity, Macrotia, Posteriorly rotated ears, Hearing impairment OMIM:618027
Kohlschutter-Tonz Syndrome-Like
EEG with focal spike waves, Upper limb spasticity, Myoclonus, Hypsarrhythmia, Posteriorly rotated... OMIM:619229
Cockayne Syndrome Type 1
Gait disturbance, Optic atrophy, Absent brainstem auditory responses, Macrotia, Lower limb spasti... ORPHA:90321
Sandhoff Disease
Impaired temperature sensation, Orthostatic hypotension, Exaggerated startle response, Fasciculat... OMIM:268800
48,Xxyy Syndrome
Tremor, Ataxia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:10
Mental Retardation, Autosomal Dominant 48
Sensorineural hearing impairment, Abnormality of the pinna, Stereotypy OMIM:617751
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Spasticity OMIM:618367
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Hypsarrhythmia OMIM:619239
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Stereotypy ORPHA:228402
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Stereotypy, Ataxia, Paraplegia, Lethargy ORPHA:927
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Stereotypy ORPHA:228384
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Gait disturbance, Aganglionic megacolon, Poor hand-eye coordination, Stereotypy, Spasti... OMIM:300352
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Hearing impairment, Attention deficit hyperactivity disord... ORPHA:401777
Radio-Tartaglia Syndrome
Large earlobe, Conductive hearing impairment, Gait imbalance, Hearing impairment, Stereotypy, Ata... OMIM:619312
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Limb hypertonia, Hypsarrhythmia, Stereotypy, Sensorineural hea... ORPHA:457351
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Stereotypy ORPHA:391307
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, ... ORPHA:261197
Ogden Syndrome
Torticollis, Abnormal head movements, Macrotia, Shuffling gait, Hypertonia, Lethargy ORPHA:276432
Developmental And Epileptic Encephalopathy 2
Myoclonus, Hypsarrhythmia, EEG with generalized slow activity, Stereotypy, Inability to walk OMIM:300672
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Hypertonia, Stereotypy ORPHA:79155
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, Stereotypy, Ataxia, Hypertonia, Recurrent hand flapping, Attention deficit hype... OMIM:300986
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Spasticity OMIM:615286
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Hyperactivity, Macrotia OMIM:300558
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posterior helix pit OMIM:613684
Stiff-Person Syndrome
Myoclonic spasms, Opisthotonus, Rigidity, Frequent falls, Exaggerated startle response OMIM:184850
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Hyperactivity, Gait ataxia, Abnormality of the pinna OMIM:300354
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Macrotia, Stereotypy, Hyperactivity, Spasticity, Gait ataxia OMIM:300486
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Low-set, posteriorly rotated ears, Stereotypy ORPHA:3306
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Torticollis, Optic nerve hypoplasia, Spastic ataxia, Stereotypy, Sensorineural hearing ... ORPHA:300570
Macrocephaly-Developmental Delay Syndrome
EEG with generalized slow activity, Stereotypy ORPHA:397612
Dilated Cardiomyopathy With Ataxia
Dystonia, Optic atrophy, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Bilateral... ORPHA:66634
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Hypsarrhythmia, Lower limb spasticity, Stereotypy, Ataxia, Hyperactivity, Stereotypical... OMIM:300912
Cri-Du-Chat Syndrome
Optic atrophy, Abnormality of the pinna, Hearing impairment, Stereotypy, Hyperactivity, Hypertoni... OMIM:123450
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Spasticity OMIM:619467
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia, Spastic tetraplegia OMIM:615574
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Angelman Syndrome
Clumsiness, Limb tremor, Progressive gait ataxia, Hyperactivity, EEG abnormality, Broad-based gait OMIM:105830
Megalocornea-Intellectual Disability Syndrome
Stereotypy, Sensorineural hearing impairment, Ataxia, EEG abnormality, Protruding ear ORPHA:2479
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Abnormal sudomotor regulation, Dystonia, Orthostatic tachycardia, Opisthot... ORPHA:217253
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Brain-Lung-Thyroid Syndrome
Clumsiness, Dystonia, Involuntary movements, Choreoathetosis, Chorea, Myoclonus, Falls, Intention... ORPHA:209905
Hyperlysinemia
Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Tremor, Hyperactivity, Hypoplasia o... ORPHA:2203
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Optic atrophy, Cataplexy, Macrotia, Fasciculations, Stereotypy,... ORPHA:496641
Angelman Syndrome
Optic atrophy, Optic disc pallor, Myoclonus, Tongue thrusting, Tremor, Hyperactivity, Inability t... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Stereotypy OMIM:618825
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Stereotypy, Anterior creases of earlobe, Hearing impair... ORPHA:1727
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Adenylosuccinase Deficiency
Opisthotonus, Myoclonus, Hyperactivity, Inability to walk, Spasticity, Gait ataxia OMIM:103050
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Macrotia, Stereotypy, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity dis... ORPHA:449291
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macrotia, Hearing impairment, Multifocal epileptiform discharges, Hyperactivity, Ataxia, Incoordi... ORPHA:369891
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Stereotypy, Sensorineural hearing impairment, Abnorm... ORPHA:500159
Tay-Sachs Disease
Hypertonia, Exaggerated startle response OMIM:272800
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe OMIM:300143
Smith-Magenis Syndrome
Conductive hearing impairment, Gait disturbance, Impaired pain sensation, Stereotypy, EEG abnorma... ORPHA:819
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Limb hypertonia, Rigidity, Low-set, posteriorly rotated ears, Hypsarrhyt... ORPHA:521426
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... ORPHA:73272
Niemann-Pick Disease, Type C2
Dystonia, Cataplexy, Stereotypy, Ataxia, Spasticity OMIM:607625
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Posteriorly rotated ears, Stereotypy OMIM:619293
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Stereotypy ORPHA:529965
Cockayne Syndrome A
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, D... OMIM:216400
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Cupped ear, Hypertonia, Stereotypy OMIM:618914
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Ataxia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:435638
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Mend Syndrome
Hyperactivity, Hypertonia OMIM:300960
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Cystinosis
Gait disturbance, Abnormal pyramidal sign, Stereotypy ORPHA:213
Phelan-Mcdermid Syndrome
Impaired pain sensation, Macrotia, Tongue thrusting, Hearing impairment, Stereotypy, Broad-based ... OMIM:606232
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Macrotia, Stereotypy, Ataxia OMIM:619435
Distal Xq28 Microduplication Syndrome
Stereotypical body rocking, Absent antihelix, Tip-toe gait, Microtia, Attention deficit hyperacti... ORPHA:293939
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Myoclonic spasms, Hypsarrhythmia, Lower limb spasticity, Stereotypy, Hyperactivity, Hyper... ORPHA:447997
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Low-set, posteriorly rotated ears, Stereotypy OMIM:615873
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Posteriorly rotated ears, Hyperactivity, Ataxia, Spasticity OMIM:618430
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Stereotypy ORPHA:261144
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Clonus, Hypertonia, Exaggerated startle response OMIM:617301
Early Infantile Epileptic Encephalopathy
Dystonia, Choreoathetosis, Myoclonus, Hypsarrhythmia, Tremor, Hyperactivity, EEG with burst suppr... ORPHA:1934
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Hypertonia, Ataxia, Posteriorly rotated ears OMIM:601853
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Poor motor coordination, Macrotia, Posterio... ORPHA:171929
Congenital Disorder Of Glycosylation, Type Iia
Macrotia, Posteriorly rotated ears, Stereotypy, Sensorineural hearing impairment, Hypertonia, Uns... OMIM:212066
Sandifer Syndrome
Torticollis, Abnormal head movements ORPHA:71272
Transketolase Deficiency
Stereotypy, Attention deficit hyperactivity disorder, Hearing impairment ORPHA:488618
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Mogs-Cdg
Sensorineural hearing impairment, Dystonia, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Attention deficit hyperactivity disorder, Gait ataxia, Stereotypy ORPHA:476126
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Tics, Hyperactivity, Optic nerve hypoplasia, Lower limb spasticity ORPHA:363686
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Decrease... ORPHA:2388
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Babinski sign, Macrotia, Shuffling gait, Hyperactivity, Spasticity, Protruding ear, Progressive s... OMIM:300534
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Tremor, Hyperactivity, EEG abnormality, Broad-based gait ORPHA:85293
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Bainbridge-Ropers Syndrome
Inability to walk, Recurrent hand flapping, Hypertonia ORPHA:352577
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Babinski sign, Rigidity, Abnormality of extrapyramidal motor function, Posteriorly... OMIM:617527
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hearing impairment OMIM:252900
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Stereotypy ORPHA:1001
White-Sutton Syndrome
Optic atrophy, Posteriorly rotated ears, Stereotypy, Sensorineural hearing impairment, Hyperactiv... ORPHA:468678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Cerebral palsy, Isometric tremor, Stereotypy, Hearing impairment, Protruding ear, Cl... OMIM:619475
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysmetria, Overfolded helix, Posteriorly rotated ears, Speech apraxia, Stereotypy, Ataxia, Trunca... OMIM:617330
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Macrotia, Stereotypy, Prominent antihelix, Hypertonia, Spasticity OMIM:615802
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Unsteady gait, Ataxia, Stereotypy ORPHA:457279
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:619103
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Stereotypy, Inability to walk, Hypertonia, Recurrent hand flapping OMIM:615485
Kleefstra Syndrome 1
Stereotypy, Abnormality of the pinna, Hearing impairment OMIM:610253
16P11.2P12.2 Microdeletion Syndrome
Tics, Hyperactivity, Abnormality of the pinna, Hearing impairment ORPHA:261211
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Hearing impairment OMIM:252920
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Macrotia, Hyperactivity, Abnormality of the pinna, Speech apraxia OMIM:618505
Pediatric-Onset Graves Disease
Tremor, Hyperactivity, Hyperkinetic movements ORPHA:525731
7Q11.23 Microduplication Syndrome
Large earlobe, Abnormal earlobe morphology, Dysmetria, Overfolded helix, Abnormality of the optic... ORPHA:96121
Brooks-Wisniewski-Brown syndrome
Optic atrophy, Poor coordination, Posteriorly rotated ears, Hyperactivity, Spastic diplegia, EEG ... OMIM:300612
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Stereotypy, Attention deficit hyperactivity disorder, EEG abnormality, Impaired pain sensation OMIM:619005
Gm1 Gangliosidosis Type 1
Macrotia, Exaggerated startle response, Hearing impairment, Decerebrate rigidity, Spasticity ORPHA:79255
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Apraxia OMIM:607485
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hearing impairment OMIM:252930
Dpagt1-Cdg
Optic atrophy, Hypsarrhythmia, EEG with generalized slow activity, Hearing impairment, Tremor, At... ORPHA:86309
Argininemia
Frequent falls, Spastic gait, Hyperactivity, Progressive spastic quadriplegia, Spastic paraparesis OMIM:207800
Citrullinemia Type Ii
Tremor, Hyperactivity, Lethargy ORPHA:247585
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Optic nerve hypoplasia, Low-set, posteriorly rotated ears, Stereotypy, Hyperto... ORPHA:468631
Mucopolysaccharidosis Type 3
Gait disturbance, Conductive hearing impairment, Optic atrophy, Loss of ambulation, Hearing impai... ORPHA:581
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Stereotypical body rocking, Tongue thrusting, Microtia ORPHA:261323
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Opisthotonus, Hypertonia, Stereotypy ORPHA:508533
Kleefstra Syndrome
Stereotypy, Thickened helices, Hearing impairment ORPHA:261494
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous sys... OMIM:256800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Poor motor coordination, Dysmetria, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear OMIM:614756
Pyruvate Carboxylase Deficiency
Dystonia, Tremor, Ataxia, Tip-toe gait, Abnormal pyramidal sign, Recurrent hand flapping ORPHA:3008
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Stereotypical hand wringing OMIM:619179
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormality of the optic disc, Hearing impairment OMIM:617516
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with occipital focal spikes, EEG with central focal spikes, EEG with parietal focal spikes, P... OMIM:301066
Joubert Syndrome 1
Optic disc pallor, Optic disc coloboma, Hyperactivity, Ataxia, Oculomotor apraxia, Hemifacial spasm OMIM:213300
Ogden Syndrome
Hypertonia, Macrotia, Stereotypy OMIM:300855
Cardiofaciocutaneous Syndrome 1
Large earlobe, Tongue thrusting, Posteriorly rotated ears, Hearing impairment, Oculomotor apraxia... OMIM:115150
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Protruding ear, Optic disc pallor, Stereotypy, Attention deficit hyperactivity ... ORPHA:464311
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Broad-based ... ORPHA:513456
Legius Syndrome
Dystonia, Vestibular Schwannoma, Hearing impairment, Hyperactivity, Attention deficit hyperactivi... ORPHA:137605
Mgat2-Cdg
Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hypsarrhythmia, Posteriorly rotat... ORPHA:79329
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Optic disc pallor, Macrotia, Stereotypy, Hyperactivity, Protruding ear ORPHA:464306
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Attention deficit hyperactivity disorder, Stereotypy OMIM:619575
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Macrotia, Posteriorly rotated ears, Stereotypy, Sensorineural hearing impairment, ... OMIM:619512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Tongue thrusting, Posteriorly rotated ears, Hearing impairment, Hemiparesis, Broad-based gait, Un... ORPHA:369950
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, Hearing impairment, Multifocal epileptiform discharges, EEG with spike-wave... ORPHA:369837
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Poor coordination, Posteriorly rotated ears, Hearing impairment, Stereotypy, Hyper... OMIM:309590
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Optic atrophy, Otosclerosis, Decreased nerve conduction velocity, ... ORPHA:580
Arboleda-Tham Syndrome
Gait imbalance, Prominent antitragus, Posteriorly rotated ears, Stereotypy, Underdeveloped tragus... OMIM:616268
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Stereotypy OMIM:616682
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overfolded helix, Difficulty walking, Stereotypy OMIM:618653
Wiedemann-Steiner Syndrome
Hyperactivity, Stereotypy ORPHA:319182
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Abnormality of the optic disc, Facial palsy, Stereotypy, Hearing impairment ORPHA:508498
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Stereotypy ORPHA:177907
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Dystonia, Optic disc pallor, Myoclonus, Exaggerated startle response, Inab... ORPHA:438213
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Stereotypy OMIM:619297
Norrie Disease
Optic atrophy, Clonus, Macrotia, Stereotypy, Sensorineural hearing impairment, Attention deficit ... ORPHA:649
1P36 Deletion Syndrome
Conductive hearing impairment, Optic atrophy, Gait disturbance, Low-set, posteriorly rotated ears... ORPHA:1606
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Overfolded helix, Hypsarrhythmia, Posteriorly rotated ears, Stereotypy, Spastic tetraparesis, Hyp... OMIM:301044
Oculocerebrorenal Syndrome Of Lowe
Clonus, Protruding ear, Low-set, posteriorly rotated ears, Stereotypy, EEG abnormality, Attention... ORPHA:534
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gait disturbance, Hearing impairment, Ataxia, Hypertonia, Stereotypical hand wringing, Broad-base... ORPHA:268261
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Exaggerated startle response, Stereotypy, Microtia, Small earlobe, Atte... OMIM:619522
Coffin-Siris Syndrome 12
Large earlobe, Simple ear, Facial palsy, Overfolding of the superior helices, Posteriorly rotated... OMIM:619325
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Stereotypy, Sensorineural hearing impairment, Hyperactivity, EEG a... ORPHA:353281
Rubinstein-Taybi Syndrome 1
Aganglionic megacolon, Poor coordination, Abnormality of the pinna, Hearing impairment, Stereotyp... OMIM:180849
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Abnormality of the pinna, Stereotypy, Sensorineural hearing impair... OMIM:194190
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:805
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Conductive hearing impairment, Stereotypy, Sensorineural hearing impairment, Hyperactivity, EEG a... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Conductive hearing impairment, Stereotypy, Sensorineural hearing impairment, Hyperactivity, EEG a... ORPHA:353284
Mowat-Wilson Syndrome
Conductive hearing impairment, Aganglionic megacolon, Impaired pain sensation, Posteriorly rotate... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Impaired pain sensation, Posteriorly rotated ears, Stereotypy, Sensorineur... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Aganglionic megacolon, Impaired pain sensation, Posteriorly rotated ears, Stereoty... ORPHA:261552
Primrose Syndrome
Calcification of the auricular cartilage, Macrotia, Stereotypy, Hearing impairment, Tics OMIM:259050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Falls, Macrotia, Congenital Horner syndrome, Stereotypical body rocking, Tip-toe gait, EEG abnorm... OMIM:619503
Lowe Oculocerebrorenal Syndrome
Stereotypy OMIM:309000

Histopathology

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

There is no histopathology data for Pjvk

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 Pjvk.

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

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MGI Allele Allele Type Produced
Pjvkem1(IMPC)J Exon Deletion Mice
Pjvktm50951(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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