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Gene: Nox3 MGI:2681162

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
NADPH oxidase 3
Synonyms:
nmf250,  het

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nox3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nox3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Schizophrenia 15
Hyperactivity OMIM:613950
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia, Torticollis ORPHA:71518
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa... ORPHA:98810
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... ORPHA:382
Episodic Kinesigenic Dyskinesia 2
Chorea, Involuntary movements, Paroxysmal dyskinesia OMIM:611031
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction ORPHA:401901
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Multiple joint contractures, Sensorineural hearing impairment, Vestibular areflexia, Dysmetria, G... ORPHA:504476
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements OMIM:618425
Spinocerebellar Ataxia 6
Ataxia, Vertigo, Dysmetria, Dysphagia, Progressive cerebellar ataxia, Truncal ataxia, Loss of amb... OMIM:183086
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Choreoathetosis, Paresthesia, Parox... ORPHA:98811
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Huntington Disease-Like 2
Chorea, Involuntary movements, Gait disturbance, Parkinsonism ORPHA:98934
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... OMIM:616981
3-Methylglutaconic Aciduria, Type Iii
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Spasticity OMIM:258501
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Huntington Disease-Like 1
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria OMIM:603218
Episodic Ataxia Type 4
Abnormal head movements, Incoordination, Ataxia, Vertigo, Frequent falls ORPHA:79136
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Friedreich Ataxia
Inability to walk, Chorea, Impaired proprioception, Dysmetria, Gait ataxia, Limb ataxia, Dysphagi... ORPHA:95
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Gait disturbance OMIM:607674
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Chorea, Involuntary movements ORPHA:98809
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
N-Acetylaspartate Deficiency
Broad-based gait, Inguinal hernia, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal... OMIM:614063
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia OMIM:618501
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Paroxysmal dyskinesia ORPHA:31709
Chorea, Benign Familial
Chorea OMIM:215450
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Chorea, Remitting, With Nystagmus And Cataract
Chorea OMIM:601372
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Abn... ORPHA:247234
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Gait disturbance, Sp... ORPHA:216873
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... OMIM:193003
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Chorea, Poor coordination, Falls, Paroxysmal dyskinesia OMIM:619150
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Abnormal pyr... ORPHA:157946
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br... OMIM:607136
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia ORPHA:324588
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements OMIM:620245
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia OMIM:618093
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Vertigo, Hand tremor, Athetosis OMIM:615483
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign OMIM:614575
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea OMIM:618760
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... ORPHA:98756
Huntington Disease-Like 1
Abnormal head movements, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria... ORPHA:157941
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus OMIM:616230
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... OMIM:609425
Cataract 11, Multiple Types
Chorea, Hypertonia OMIM:610623
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Chorea OMIM:615473
Sydenham Chorea
Chorea, Unsteady gait, Hemiballismus ORPHA:306731
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,... OMIM:613135
Pontocerebellar Hypoplasia, Type 2C
Chorea OMIM:612390
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Pontocerebellar Hypoplasia, Type 2D
Appendicular spasticity, Chorea, Clonus, Spastic tetraplegia OMIM:613811
Gordon Holmes Syndrome
Chorea, Ataxia OMIM:212840
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... OMIM:604391
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Progressive extrapyram... ORPHA:401768
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity, Hearing impairment OMIM:312840
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements OMIM:245348
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal si... ORPHA:98759
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abnormality o... OMIM:617672
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Cerebral palsy, Spasticity OMIM:618557
Huntington Disease-Like 3
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... OMIM:604802
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Hyperk... ORPHA:13
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Myoclonus, Difficulty walking, ... ORPHA:53351
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Hemiplegia OMIM:614820
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Ataxia-Telangiectasia-Like Disorder
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor apraxia, Freque... ORPHA:251347
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Distal sen... OMIM:208920
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting OMIM:300624
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Choreoathetosis, Athetosis, Chorea OMIM:309541
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis OMIM:104290
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia ORPHA:3240
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre... ORPHA:98755
Developmental And Epileptic Encephalopathy 27
Chorea, Myoclonus, Spasticity OMIM:616139
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnorma... ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia, Parox... ORPHA:53583
Basal Ganglia Calcification, Idiopathic, 6
Choreoathetosis, Involuntary movements, Parkinsonism OMIM:616413
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Action tremor OMIM:619738
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Low-set ears, Spasticity OMIM:617931
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus OMIM:619317
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Spasticity OMIM:617493
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Spasticity OMIM:614254
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Action tremor OMIM:606438
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal choreoathetosis OMIM:118800
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Low-set ears, Spasticity OMIM:618451
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp... ORPHA:238455
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Progressive sensorineural hear... OMIM:301020
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia OMIM:601042
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Usher Syndrome
Abnormal vestibular function, Ataxia, Abnormal dental enamel morphology, Sensorineural hearing im... ORPHA:886
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Intenti... OMIM:619725
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Sensorineural hearing impairment, Hyperto... ORPHA:79097
Episodic Kinesigenic Dyskinesia 1
Paroxysmal choreoathetosis OMIM:128200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Abnor... OMIM:600795
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior OMIM:620270
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Loss of ambulation, Spa... OMIM:618088
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... OMIM:607483
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Juvenile Amyotrophic Lateral Sclerosis
Lower limb spasticity, Ataxia, Clonus, Parkinsonism, Head titubation, Inability to walk, Chorea, ... ORPHA:300605
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... OMIM:618917
Myoclonus, Intractable, Neonatal
Athetosis, Chorea, Myoclonus OMIM:617235
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Decreased body weight, Ataxia, Inability to walk, Limb ataxia, Self-injurious b... OMIM:617695
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Sneddon Syndrome
Tremor, Chorea, Vertigo, Hemiparesis ORPHA:820
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Spastic Paraplegia 86, Autosomal Recessive
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis OMIM:619735
Birk-Aharoni Syndrome
Inability to walk, Chorea, Spastic tetraplegia, Hearing impairment OMIM:620071
Neurodevelopmental Disorder With Dystonia And Seizures
Athetosis, Chorea, Spastic tetraplegia OMIM:619922
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity OMIM:271930
Spinocerebellar Ataxia 1
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... OMIM:164400
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Early-Onset X-Linked Optic Atrophy
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor ORPHA:98890
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... ORPHA:225154
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Chorea, Unsteady gait, Progressive cerebellar ataxia, Upper limb spasticit... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Ataxia, Small for gestational age, Failure to thrive in... OMIM:614104
Distal Deletion 3P
Low-set, posteriorly rotated ears, Inguinal hernia, Umbilical hernia, Abnormal vestibulo-ocular r... ORPHA:1620
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv... OMIM:618218
Christianson Syndrome
Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Arthrogryposi... ORPHA:85278
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis, Hear... ORPHA:391417
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... ORPHA:225147
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Joint contracture, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Choreoathetosis, Myoclonus OMIM:261630
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Foxg1 Syndrome
Inability to walk, Bruxism, Choreoathetosis, Difficulty walking, Dystonia, Decreased body weight,... ORPHA:561854
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Mitochondrial Dna Depletion Syndrome 17
Chorea, Hemiballismus, Spastic tetraparesis OMIM:618567
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, S... OMIM:617964
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Chorea, Ataxia, Spasticity ORPHA:70472
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Developmental And Epileptic Encephalopathy 40
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis OMIM:617065
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreoathetosis,... OMIM:618877
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Unsteady gait, Dysphagia, Agitation, Bruxism, Abnormal repetitive mannerisms OMIM:617435
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Low-set ears, Spasticity, Macrotia OMIM:620149
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality of extrapyramidal motor ... OMIM:615673
Xq28 (MECP2) duplication
Failure to thrive, Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive manne... DECIPHER:45
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol... OMIM:619092
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Hyperactivity, Small for gestational age, Abnormal repetitive mannerisms, Repeti... ORPHA:352490
Mepan Syndrome
Ataxia, Chorea, Gait disturbance, Myoclonus, Spasticity ORPHA:508093
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Babinski sign, Choreoathetosis, Frequent falls OMIM:619054
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Hemiplegia/hemiparesis, Chorea ORPHA:289916
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity OMIM:614249
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Hypertonia, Spastic... OMIM:617864
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Conductive hearing impairment OMIM:618497
Pontocerebellar Hypoplasia, Type 8
Posteriorly rotated ears, Involuntary movements, Chorea, Gait ataxia, Hypertonia, Low-set ears, S... OMIM:614961
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low... OMIM:618342
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia OMIM:615924
Leukodystrophy, Hypomyelinating, 4
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity OMIM:612233
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Myoclonus, Hearing impairment OMIM:609056
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... OMIM:606002
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Overweight, Difficulty walking, Dystonia, Abnormal repetitive mannerisms ORPHA:280763
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Spasticity OMIM:613970
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Chorea, Difficulty walking, Truncal ataxia ORPHA:369840
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Hemiparesis, Macrotia, Limb hypertonia OMIM:618004
D-Glyceric Aciduria
Chorea, Myoclonus, Spasticity, Hearing impairment ORPHA:941
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Progressi... OMIM:300260
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Neuroferritinopathy
Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk... ORPHA:157846
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Babinski sign, Ataxia OMIM:604168
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gait disturbance OMIM:250100
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... OMIM:617600
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Leukodystrophy, Hypomyelinating, 2
Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti... OMIM:608804
Ogden Syndrome
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait, Low-set ears, Macrotia ORPHA:276432
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Nasu-Hakola Disease
Oculomotor apraxia, Chorea, Spasticity ORPHA:2770
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Obesity... OMIM:600430
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Spas... OMIM:610217
Pontocerebellar Hypoplasia, Type 2B
Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Spasticity, Limb hypertonia OMIM:612389
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthotonus, Choreoathetosis, Apraxia, Sp... OMIM:619653
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spastic tetraple... OMIM:300055
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... ORPHA:411511
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,... OMIM:182290
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Limb hypertonia OMIM:261640
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Choreoathetosis, Spasticity, Limb hypertonia OMIM:615905
Systemic Lupus Erythematosus 17
Chorea OMIM:301080
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, P... ORPHA:206594
X-Linked Creatine Transporter Deficiency
Athetosis, Chorea, Hypertonia, Ataxia ORPHA:52503
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Chorea, Protruding ear, Hemiparesis, Microtia, Low-set ears OMIM:618829
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Developmental And Epileptic Encephalopathy 84
Chorea, Babinski sign, Opisthotonus, Large earlobe, Spasticity OMIM:618792
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis OMIM:612126
Metachromatic Leukodystrophy, Adult Form
Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec... ORPHA:309271
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hyperkinetic... OMIM:615356
Pandas
Chorea, Clumsiness ORPHA:66624
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Oculomotor apraxia, Spasticity OMIM:612438
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Chorea OMIM:616744
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Involuntary movements, Posteriorly rotated ears, Prominent crus of helix, Inability to wa... OMIM:617804
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Snijders Blok-Fisher Syndrome
Cupped ear, Protruding ear, Choreoathetosis, Opisthotonus, Spasticity OMIM:618604
Gm2 Gangliosidosis, Ab Variant
Progressive spastic quadriplegia, Chorea, Abnormal pyramidal sign, Exaggerated startle response ORPHA:309246
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... OMIM:619580
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Kleine-Levin Syndrome
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... ORPHA:33543
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Limb hypertonia OMIM:233910
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Limb dystonia,... ORPHA:93958
Combined Oxidative Phosphorylation Deficiency 27
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Hearing impairment OMIM:616672
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Obesity, Compulsive behavio... OMIM:618430
Episodic Ataxia Type 1
Vertigo, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia ORPHA:37612
Rheumatic Fever
Hemiballismus, Chorea, Gait disturbance, Fasciculations ORPHA:3099
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Macrotia, Ataxia OMIM:619435
Pelizaeus-Merzbacher Disease
Broad-based gait, Ataxia, Hearing impairment, Tremor, Head titubation, Inability to walk, Spastic... OMIM:312080
Brain-Lung-Thyroid Syndrome
Incoordination, Ataxia, Involuntary movements, Chorea, Sensorineural hearing impairment, Clumsine... ORPHA:209905
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, Abnormal repeti... OMIM:617807
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... OMIM:610883
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Vertigo, Athetosis ORPHA:25
Developmental And Epileptic Encephalopathy 29
Blepharospasm, Chorea, Spasticity OMIM:616339
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Hsd10 Mitochondrial Disease
Choreoathetosis, Spasticity, Spastic tetraplegia, Sensorineural hearing impairment OMIM:300438
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Frequent falls, Ataxia OMIM:618416
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Bilateral sensorineural hearing impa... OMIM:618321
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Dystonia, Failure to thrive, ... ORPHA:778
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Cimdag Syndrome
Chorea, Ataxia, Spasticity, Sensorineural hearing impairment OMIM:619273
Pontocerebellar Hypoplasia, Type 2A
Chorea, Extrapyramidal dyskinesia, Opisthotonus OMIM:277470
48,Xxyy Syndrome
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Tremor, Obesity, Attention deficit hy... ORPHA:10
Cri-Du-Chat Syndrome
Overfriendliness, Inguinal hernia, Hyperactivity, Abnormal pinna morphology, Small for gestationa... OMIM:123450
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compul... OMIM:300986
New-Onset Refractory Status Epilepticus
Fever, Abnormal head movements ORPHA:363558
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Large earlobe, Gait imbalance, Low-set... OMIM:619312
Chromosome 18Q Deletion Syndrome
Broad-based gait, Tremor, Chorea, Poor coordination, Sensorineural hearing impairment, Atresia of... OMIM:601808
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe ORPHA:411986
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Asymmetry of the ears, Overweight, Sensorineural hearin... OMIM:617796
Snijders Blok-Campeau Syndrome
Broad-based gait, Inguinal hernia, Unsteady gait, Low-set ears, Attention deficit hyperactivity d... OMIM:618205
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... OMIM:300912
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Spast... ORPHA:765
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Atte... ORPHA:261197
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment ORPHA:238750
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Leigh Syndrome
Ataxia, Involuntary movements, Chorea, Sensorineural hearing impairment, Spastic diplegia, Choreo... ORPHA:506
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Hernia, Abnor... ORPHA:3306
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... ORPHA:208447
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Ankle flexion contracture, Inability to walk, Bilateral conductive hearing impairment, Low-set ea... OMIM:617802
Rett Syndrome, Congenital Variant
Chorea, Protruding ear, Athetosis, Apraxia, Spasticity OMIM:613454
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Recurrent hand flapping, Agitation, Gait disturbance, Bruxism OMIM:617903
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Hearing impairment, Limb hypertonia OMIM:618247
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Intermittent hypothermia, Oculogyric crisis, Tongue th... OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... OMIM:617061
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Abnormal repetitive mannerisms, Failure to thrive, Agitation, Ataxia ORPHA:927
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Low-set ears, Umbilical hernia, Abnormal repetitive manneri... OMIM:616579
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Joint con... OMIM:618914
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul... ORPHA:168491
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ambulation, Non-periodic recurrent fever, Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Underfolded superior helices, Gait disturbance, Attention ... OMIM:300352
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... ORPHA:449291
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Sandifer Syndrome
Abnormal head movements, Torticollis, Hiatus hernia ORPHA:71272
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Umbilical ... OMIM:617751
Alexander Disease
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Spasticity ORPHA:58
Cystinosis
Fever, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms ORPHA:213
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Heat intolerance, Unsteady gait, ... OMIM:606232
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Inability to walk, Chorea, Tip-toe gait ORPHA:268
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cho... OMIM:617988
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Gait disturbance, Disinhibition,... ORPHA:43
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Small for gestational age, Self-injurious behavior, Compulsive behavior... OMIM:613174
Developmental And Epileptic Encephalopathy 4
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia OMIM:612164
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... ORPHA:500159
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Congenital diaphragmatic hernia, Aggressi... OMIM:616364
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis... ORPHA:819
Pelizaeus-Merzbacher Disease
Ataxia, Choreoathetosis, Gait disturbance, Spasticity, Hearing impairment ORPHA:702
Den Hoed-De Boer-Voisin Syndrome
Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Overweight, Obesity, Agitation, Dysp... OMIM:619229
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia, Hearin... OMIM:618249
Choreoacanthocytosis
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... ORPHA:2388
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiballismus, Athetoid cerebral palsy ORPHA:522077
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm... OMIM:616393
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia, Head tremor OMIM:619428
Pontocerebellar Hypoplasia, Type 7
Ataxia, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasciculations, Myo... OMIM:614969
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Ataxia, Hearing impairment, Tremor, Chorea, Abnormal pyram... ORPHA:646
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairmen... OMIM:212066
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis ORPHA:27
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Athetosis, Hyperkinetic movements, ... OMIM:615273
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Mcleod Syndrome
Chorea, Impaired vibration sensation at ankles OMIM:300842
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Elbow contracture, Compulsive behaviors, Attention deficit hyperactivity disorder, Joint ... OMIM:615656
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Knee flexion contractur... ORPHA:435638
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... ORPHA:476126
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Flexion contracture, Low-set ears, Attention deficit hyperactivity diso... OMIM:619293
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Fa... OMIM:619695
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Chorea, Sensorineural hearing impairment, Gait ataxia, Hypertonia, Spasticity ORPHA:255210
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Contracture of the proximal interphalangeal joint of ... ORPHA:457279
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitiv... OMIM:610253
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Developmental And Epileptic Encephalopathy 100
Choreoathetosis, Chorea, Myoclonus, Gait ataxia OMIM:619777
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Chorea, Athetosis, Hyperkinetic movements, Myoclonus, Oculomotor apraxia, Acti... ORPHA:404454
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Prominent antihelix, Inappropriate laughter, Enamel hypoplasia, Macrotia, Abno... OMIM:615802
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Compulsive behaviors, Attention deficit hyperactivity d... ORPHA:1001
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Protruding ear ORPHA:2479
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Otitis media, Compulsive behaviors, Decreased body weight, Abnormal repetit... OMIM:619475
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Hyperactivity, Posteriorly rotated ears, Congenital diaphragmati... ORPHA:468678
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Collectionism, Hyperactivity, Congenital diap... ORPHA:96121
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... ORPHA:445038
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears... OMIM:619575
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Limb dystonia, Abno... ORPHA:457351
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Histidinemia
Hyperactivity ORPHA:2157
Severe Oculo-Renal-Cerebellar Syndrome
Spastic diplegia, Choreoathetosis, Large earlobe, Spasticity, Macrotia ORPHA:2715
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Inability to walk, Sensorineural hearing impairment, Bilateral senso... ORPHA:300570
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Dysphagia, Dystonia, Arthrogryposis multiplex congenita, Macrotia, Abnormal repetitive ma... ORPHA:496641
Spondyloenchondrodysplasia
Chorea, Spasticity ORPHA:1855
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619103
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Catastrophic Antiphospholipid Syndrome
Chorea ORPHA:464343
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ataxia, Choreoathetosis, Difficulty walking, Cholesteatoma OMIM:610978
Xeroderma Pigmentosum, Complementation Group A
Ataxia, Sensorineural hearing impairment, Distal sensory impairment, Choreoathetosis, Spasticity OMIM:278700
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Kleefstra Syndrome
Aggressive behavior, Self-mutilation, Obesity, Self-injurious behavior, Hernia, Thickened helices... ORPHA:261494
Dilated Cardiomyopathy With Ataxia
Ataxia, Repetitive compulsive behavior, Bilateral sensorineural hearing impairment, Dystonia, Act... ORPHA:66634
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Galloway-Mowat Syndrome 9
Choreoathetosis, Macrotia, Low-set ears OMIM:619603
Bainbridge-Ropers Syndrome
Failure to thrive, Posteriorly rotated ears, Inability to walk, Contracture of the proximal inter... OMIM:615485
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysmetr... OMIM:617330
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Clonus, Hair-pulling, Protruding ear, Hypertonia, Myoclonic spasms, Low-se... ORPHA:447997
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Ataxia, Dysphagia, Dystonia OMIM:607625
Holoprosencephaly
External ear malformation, Chorea, Abnormal antihelix morphology, Spasticity, Macrotia ORPHA:2162
Trichotillomania
Hair-pulling OMIM:613229
Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Rigidity, Slurred speech, Choreoathetosis, Tip-toe gait, Abnormality of extrapyrami... ORPHA:157850
Nmda Receptor Encephalitis
Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclonus ORPHA:217253
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements, Obesity, Low-set ears, Hearing impairment ORPHA:369837
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Hiatus hernia, Aggr... OMIM:614756
Neuroleptic Malignant Syndrome
Tremor, Chorea, Extrapyramidal muscular rigidity ORPHA:94093
Pitt-Hopkins Syndrome
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms OMIM:610954
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Spasticity, Ataxia, Sensorineural hearing impairment OMIM:278730
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Sensorineural hearing impairment, Sel... OMIM:619512
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... OMIM:208900
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms OMIM:300672
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
De Sanctis-Cacchione Syndrome
Ataxia, Sensorineural hearing impairment, Babinski sign, Scissor gait, Choreoathetosis, Hypertoni... OMIM:278800
Menkes Disease
Chorea, Hypertonia, Spasticity ORPHA:565
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Ataxia OMIM:620047
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Ankle flexion contracture, Protruding ear, Gait dis... ORPHA:464311
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma... OMIM:619005
Lesch-Nyhan Syndrome
Choreoathetosis, Spasticity, Abnormality of extrapyramidal motor function, Opisthotonus OMIM:300322
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Aggressive behavior,... OMIM:620330
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity, Difficulty walking, Low-set ears, Overfolded helix, Abnormal repetitive... OMIM:618653
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Failure to thrive, Abnormal repetiti... ORPHA:319182
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Multiple joint contractures, Failure to thrive, Small for gestational age, Protrud... ORPHA:464306
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Umbilical her... OMIM:301040
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Multiple joint contractures, Camptodactyly of finger, Ankle fl... ORPHA:468631
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Abnormal repetitive mannerisms, Cupped ear, Bruxism, Dys... OMIM:615873
Mucopolysaccharidosis Type 2
Otosclerosis, Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hea... ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Posteriorly rotated ears, Aggressive behavior, Obesity, Recurrent otitis media, Umbilical hernia,... OMIM:301066
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Cupped ear, Flexion contractu... OMIM:309590
Kinsship Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Low-set ears, Bruxism OMIM:619297
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms, Elbow flexion contracture, Opisthotonus ORPHA:508533
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Arboleda-Tham Syndrome
Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Dysphagia, Prominent a... OMIM:616268
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Sensorineural hearing impairment, Pol... ORPHA:1606
Primary Sjögren Syndrome
Chorea, Somatic sensory dysfunction ORPHA:289390
Systemic Lupus Erythematosus
Chorea ORPHA:536
Van Esch-O'Driscoll Syndrome
Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... OMIM:301030
Brucellosis
Chorea ORPHA:1304
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal dental enamel morphology, Protruding... ORPHA:534
Norrie Disease
Failure to thrive, Cachexia, Sensorineural hearing impairment, Protruding ear, Abnormal cochlea m... ORPHA:649
Primrose Syndrome
Hip contracture, Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behav... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Truncal obesit... OMIM:612474
Ogden Syndrome
Torticollis, Inguinal hernia, Dysphagia, Protruding ear, Low-set ears, Minimal subcutaneous fat, ... OMIM:300855
Monosomy 22Q13.3
Hair-pulling, Macrotia, Hearing impairment, Impaired pain sensation ORPHA:48652
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Sensorineural hearing impairment, ... OMIM:619325
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Abnormality of extrapyramidal ... OMIM:241080
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Congenital diaphragmatic hernia, Camptodactyly, Overfolded helix, Abnor... OMIM:301044
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Hearing impairment ORPHA:508498
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... OMIM:619522
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Aggressive behavior, Corneal scarring, Keloids, Ename... OMIM:309000
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Small for gestational age, Sensorineural hearing impairment, Conductiv... OMIM:194190
Mowat-Wilson Syndrome
Broad-based gait, Posteriorly rotated ears, Ataxia, Uplifted earlobe, Impaired pain sensation, In... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Inability ... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Inability ... ORPHA:261552

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 Nox3

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 Nox3.

No publications found that use IMPC mice or data for Nox3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nox3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nox3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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