Gene Summary

Name:
contactin associated protein-like 2
Synonyms:
5430425M22Rik,  Caspr2

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
increased exploration in new environment Cntnap2em1(IMPC)H HOM   Early adult 5.84×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

Human diseases caused by Cntnap2 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 Cntnap2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pitt-Hopkins-Like Syndrome 1
Stereotypy, Seizure, Ataxia, Hyperactivity, Generalized-onset seizure, EEG abnormality, Spasticit... OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Cerebral palsy, Interictal epileptiform activity, EEG with gen... ORPHA:163681

The table below shows human diseases predicted to be associated to Cntnap2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Schizophrenia 19
Cognitive impairment OMIM:617629
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia, Poor eye contact, Hypsarrhythmi... OMIM:608097
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, EEG with focal slow activity, Abnormal cerebral cortex morphol... ORPHA:101029
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Infantile spasms, Delayed social development, Myoclonic seizure, Hypsarrhythmia, Spastic tetraple... OMIM:618677
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, F... ORPHA:275864
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Spastic tetraplegia, Seizure, Pachygyria, Hypoplasia of the corpus ... OMIM:615411
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Dementia, Hyperintensity of cerebral white matter on MRI, Cognitive impairment, My... ORPHA:204
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Cognitive impairment, Focal impaired awareness seizure, Astrocytosis, Hemipar... OMIM:607341
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Stereotypy, Seizure, Atax... OMIM:618709
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Infantile spasms, Hypsarrhythmia, Seizure, Pachygyria, Motor seizure, Agyria, Spasticity, Gray ma... ORPHA:1084
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Spastic tetraplegia, Seizure, Pachygyria, Agyria, Gray matter heter... OMIM:615412
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Large basal ganglia, Chorea, Cortical dysplasia... ORPHA:88616
Hemimegalencephaly
EEG with focal sharp slow waves, Seizure, Polymicrogyria, Interictal EEG abnormality, Focal corti... ORPHA:99802
Familial Infantile Bilateral Striatal Necrosis
Babinski sign, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... ORPHA:225154
Lissencephaly 3
Spastic tetraplegia, Seizure, Ataxia, Pachygyria, Hypoplasia of the corpus callosum, Polymicrogyr... OMIM:611603
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Cognitive impairment, Seizure, Ataxia, Hypertonia, EEG abnorma... ORPHA:1314
Lissencephaly 1
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Seizure, Agyria, Abnormal cerebra... OMIM:607432
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Autism, Susceptibility To, X-Linked 3
Impaired use of nonverbal behaviors, Stereotypy, Lack of peer relationships, Seizure, EEG abnorma... OMIM:300496
Autism, Susceptibility To, 8
Impaired use of nonverbal behaviors, Stereotypy, Seizure, Impaired ability to form peer relations... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Impaired use of nonverbal behaviors, Stereotypy, Lack of peer relationships, Seizure, EEG abnorma... OMIM:300425
Autism
Impaired use of nonverbal behaviors, Stereotypy, Seizure, Impaired ability to form peer relations... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired use of nonverbal behaviors, Stereotypy, Seizure, Impaired ability to form peer relations... OMIM:608636
Huntington Disease
Clumsiness, Gait imbalance, Seizure, Cerebral atrophy, Gait disturbance, Clonus, Caudate atrophy,... ORPHA:399
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Rigidity, Myoclonus, Stereotypy, Astrocytosis, Frontot... OMIM:600795
Lissencephaly, X-Linked, 1
Seizure, Ataxia, Pachygyria, Agyria, Spasticity, Gray matter heterotopia, Lissencephaly, Agenesis... OMIM:300067
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Astrocytosis, EEG with c... ORPHA:100070
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Seizure, Spasticity, Attention deficit hyperactivity disorde... OMIM:618185
Microlissencephaly
Cerebral dysmyelination, Periventricular heterotopia, Simplified gyral pattern, Neuronal loss in ... ORPHA:1083
Intellectual Developmental Disorder With Autism And Speech Delay
Pachygyria, Impaired social interactions, Inability to walk, Stereotypy OMIM:606053
Developmental And Epileptic Encephalopathy 56
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety OMIM:617665
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Spastic tetraplegia, Seizure, Hyperactivity, Inability to walk, Progressive microc... OMIM:616657
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Dementia, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, ... ORPHA:282166
Polymicrogyria Due To Tubb2B Mutation
Seizure, Polymicrogyria, Focal-onset seizure, Oromotor apraxia, Pachygyria, Attention deficit hyp... ORPHA:300573
Immunodeficiency 8
Hyperactivity OMIM:615401
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Seizure, Gray matter heterotopia, Hypsarrhythmia OMIM:615544
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Seizure, Hyperactivity, EEG abnormality ORPHA:436151
Nodular Neuronal Heterotopia
Abnormality of neuronal migration, Seizure, EEG abnormality ORPHA:2149
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Gilles De La Tourette Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation OMIM:137580
Unilateral Focal Polymicrogyria
EEG with occipital focal spikes, Spastic hemiparesis, Focal impaired awareness seizure, Seizure, ... ORPHA:268947
Foxg1 Syndrome
Poor eye contact, Stereotypy, Focal-onset seizure, Impaired social interactions, Choreoathetosis,... ORPHA:561854
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... OMIM:619191
Kufor-Rakeb Syndrome
Torticollis, Paraparesis, Seizure, Anosmia, Gait disturbance, Dementia, Bradykinesia, Distal sens... OMIM:606693
Microcephaly, Seizures, And Developmental Delay
Simplified gyral pattern, Seizure, Ataxia, Progressive microcephaly, Hyperactivity, Hypoplasia of... OMIM:613402
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Seizure, Polymicrogyria, Gra... OMIM:604213
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Tongue fasciculations, Dysplastic corpus callosum, Poor eye contact, Ataxia, Inability ... OMIM:618276
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Seizure, Inability to walk, Spastic paraplegia, Microcephaly OMIM:618572
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Stereotypy, Seizure, Clonic seizure, Hypertonia, Polymicrogyria, Secondary m... OMIM:615282
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Infantile spasms, Nocturnal seizures, Cognitive impairment, Focal imp... ORPHA:65683
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Shuffling gait, Bradykinesia, Falls, Apathy, Short stepped shuffling gait, Frontotempor... ORPHA:412066
Band Heterotopia
Subcortical band heterotopia, Seizure, Polymicrogyria, Spasticity, Gray matter heterotopia, Agene... OMIM:600348
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... ORPHA:1929
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Hemiparesis, Seizure, Pachygyria, Hypoplasia of the corpus callosum, L... OMIM:610031
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Prominent nose, Simplified gyral pattern, Absent septum pellucidum, Seizure, Inability to walk, B... OMIM:618492
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Focal motor status epilepticus, Paroxysmal dyskinesia, Chorea, Falls... OMIM:619150
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment, Seizure, Hypertonia, EEG abnormality, Mi... ORPHA:2216
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Seizure, Continuous spike and waves during slow sleep, Interict... ORPHA:98818
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Stereotypy, Seizure, Status epilepticus, Spastic diplegia, Inability to walk, Sec... OMIM:617830
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia, Progressive microcephaly, Seizure, Hypoplasia of the corpus callosum,... OMIM:617862
Autosomal Dominant Non-Syndromic Intellectual Disability
Focal impaired awareness seizure, Leukoencephalopathy, Stereotypy, Seizure, Bilateral generalized... ORPHA:178469
Intellectual Developmental Disorder, X-Linked 104
Poor eye contact, Wide nasal bridge, Tremor, Ataxia, Seizure, Hyperactivity, Spasticity, Hypoplas... OMIM:300983
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, EEG with focal epileptiform discharges, Paresthesia, Bilateral tonic-clon... ORPHA:98820
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Simplified gyral pattern, Stereotypy, Tremor, Seizure, Spastic tetraparesis, Hyperactivity, Periv... OMIM:619470
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Seizure, Gray matter heterotopia, Hypoplasia of the corpus c... OMIM:617201
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Dystonia, Generalized non-motor (absence) seizure, Tonic seizure, Chore... OMIM:619317
Pitt-Hopkins-Like Syndrome 1
Stereotypy, Seizure, Ataxia, Hyperactivity, Generalized-onset seizure, EEG abnormality, Spasticit... OMIM:610042
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Seizure, Hyperactivity, Tetraparesis, Spasticity, Mental det... OMIM:615924
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor, Seizure, Inability to walk, Stereotypical hand wringing, Epileptic spasm OMIM:619561
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Stereotypy OMIM:300271
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Acroparesthesia, Partial agenesis of the corpus callosum, Limb... ORPHA:101030
Lissencephaly 4
Simplified gyral pattern, Seizure, Hypertonia, Lissencephaly, Agenesis of corpus callosum, Microc... OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Seizure, Polymicrogyria, Spasticity, Hypoplasia of the corpus callosum, Cortical d... OMIM:614039
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Chorea, Convulsive status epilepticus, Inability to walk, Stereotypical hand wringing, ... OMIM:618760
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Cerebral palsy, Interictal epileptiform activity, EEG with gen... ORPHA:163681
Hyperprolinemia, Type I
Stereotypy, Seizure, Ataxia, Status epilepticus, Hyperactivity, EEG abnormality OMIM:239500
Cln5 Disease
Clumsiness, Seizure, Corpus callosum atrophy, Focal-onset seizure, EEG with spike-wave complexes,... ORPHA:228360
Atypical Rett Syndrome
Poor eye contact, Seizure, Impaired social interactions, Gait disturbance, Tongue thrusting, EEG ... ORPHA:3095
Late Infantile Neuronal Ceroid Lipofuscinosis
Stereotypy, Seizure, Corpus callosum atrophy, Focal-onset seizure, Cerebral atrophy, Motor deteri... ORPHA:168491
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Broad nasal tip, Stereotypy, Seizure, Spasticity, Cerebral atrophy, Difficulty walking, Microcephaly OMIM:617393
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Shyness, Dystonia, Spastic dysarthria, Cerebral cortical atrophy, Stereotypy, Seiz... ORPHA:280763
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior OMIM:619639
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Dystonia, Chorea, Myoclonus, Seizure, Inability to walk, Hyperkinetic movements, Polymicrogyria, ... OMIM:614254
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Photosensitive myoclonic seizure, Focal motor seizure, Astrocytosis, Ataxia, Slowed slurred speech OMIM:172500
Pontocerebellar Hypoplasia, Type 14
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Delayed social development, Myoclonic... OMIM:619301
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Seizure, Attention deficit hyperactivity disorde... OMIM:608716
Myoclonic-Astatic Epilepsy
Interictal epileptiform activity, Lack of peer relationships, Focal-onset seizure, Anteverted nar... ORPHA:1942
Pontocerebellar Hypoplasia, Type 15
Dystonia, Partial agenesis of the corpus callosum, Bilateral tonic-clonic seizure, Infantile spas... OMIM:619302
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Falls, EEG with focal sharp slow waves, Hyperactivity,... ORPHA:2382
Leber Congenital Amaurosis 10
Seizure, Hyposmia OMIM:611755
Autism, Susceptibility To, X-Linked 2
Impaired use of nonverbal behaviors, Stereotypy, Lack of peer relationships, Seizure, EEG abnorma... OMIM:300495
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... OMIM:605361
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Seizure, Tremor, Hyperactivity, Inability to walk, General... OMIM:618090
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Infantile spasms, Myoclonus, Focal impaired awareness seizure, Poor eye contact,... ORPHA:411986
N-Acetylaspartate Deficiency
Stereotypy, Seizure, Truncal ataxia, Unsteady gait, Microcephaly OMIM:614063
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Broad nasal tip, Cerebral white matter hypoplasia, Hypsarrhythmia, Seizure, Stereotypical hand wr... ORPHA:500545
Parkinson Disease 8, Autosomal Dominant
Dementia, Rigidity, Bradykinesia, Lewy bodies, Parkinsonism with favorable response to dopaminerg... OMIM:607060
Juvenile Huntington Disease
Dystonia, Dementia, Neuronal loss in basal ganglia, Rigidity, Chorea, Myoclonus, Bradykinesia, Se... ORPHA:248111
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Seizure, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Bilateral Generalized Polymicrogyria
Stereotypy, Focal-onset seizure, Oculogyric crisis, Generalized tonic seizure, Abnormal hippocamp... ORPHA:208447
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Gait disturbance, Spastic tetraplegia, Seizure, Pachygyria, Fo... OMIM:614563
Spastic Paraplegia 45, Autosomal Recessive
Babinski sign, Dysplastic corpus callosum, Spastic gait, Lower limb spasticity, Spastic paraplegi... OMIM:613162
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Poor eye contact, Stereotypy, Seizure, Ataxia, Inability to walk, Bulbous nose... OMIM:617695
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Seizure, Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral... ORPHA:500166
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Continuous spike and waves during slow sleep, Short nose, Focal i... OMIM:245570
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Prominent nasal tip, Choreoathetosis, Short nose, Stereotypy, At... OMIM:618218
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Megalencephaly, Wide nasal bridge, Astrocytosis, Seizure, Inability to walk, Difficulty walking OMIM:611087
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum, Glioblastoma multiforme OMIM:619101
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... OMIM:618917
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Seizure, Microcephaly, Cerebral calcification ORPHA:1980
Superficial Siderosis
Paresthesia, Progressive gait ataxia, Seizure, Abnormal pyramidal sign, Anosmia, Dementia, Dysmet... ORPHA:247245
Motor Neuron Disease With Dementia And Ophthalmoplegia
Dementia, Cerebral atrophy, Corticospinal tract pallor, Astrocytosis OMIM:600333
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Leukoencephalopathy, Intention tremor, Abnormality of thalamus morphology, Head trem... OMIM:613724
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Stereotypy, Seizure, Generalized myoclonic seizure OMIM:616341
Lissencephaly 5
Subcortical band heterotopia, Gray matter heterotopia, Leukoencephalopathy, Seizure, Hypoplasia o... OMIM:615191
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Tonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, EEG with occipital epileptiform ... OMIM:619428
Spinocerebellar Ataxia 17
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Myoclonus, Frontal lobe dementia, Bradykinesia, ... OMIM:607136
Cdkl5-Deficiency Disorder
Gait disturbance, Infantile spasms, Impaired pain sensation, Poor eye contact, Multifocal epilept... ORPHA:505652
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Progressive microcephaly, Stereotypical hand wringing, Hyperkinetic movements, Impaired ... ORPHA:397933
Familial Infantile Myoclonic Epilepsy
Clumsiness, Simple febrile seizure, Gait disturbance, EEG with focal spike waves, Limb myoclonus,... ORPHA:352582
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Infantile spasms, Bilateral tonic-clonic seizure, Colpocephaly, Seizu... ORPHA:250972
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Hyperactivity, Periventri... OMIM:301008
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Dermoid Cysts, Familial Frontonasal
Nocturnal seizures, Wide nasal bridge, Seizure, Nasal congestion, Anosmia, Deviated nasal septum OMIM:600679
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Myoclonic seizure, Gliosis, Wide nasal bridge, Neuronal loss in th... ORPHA:168486
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Babinski sign, Paroxysmal dystonia, Dysplastic corpus callosum, Infan... ORPHA:2524
Spinocerebellar Ataxia Type 2
Postural tremor, Abnormal cortical gyration, Dementia, Dystonia, Kinetic tremor, Chorea, Cerebral... ORPHA:98756
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Stereotypy, Seizure, Mental deterioration, Motor... ORPHA:168782
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Polymicrogyria, Cerebral atrophy, Partial agenesis of the corpus callosum, Cerebellar gl... ORPHA:79243
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Limb hypertonia, Microlissencephaly, Periventricular het... OMIM:616212
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Schizencephaly, Spastic tetraplegia, Subcortical heterotopia, Pol... OMIM:614483
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Seizure, Focal white matt... ORPHA:391417
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Dementia, Myoclonus, Gliosis, Astrocytosis, Ataxia, Hypertonia, Epilepsia partialis co... OMIM:203700
Hereditary Late-Onset Parkinson Disease
Dystonia, Dementia, Rigidity, Frequent falls, Gliosis, Shuffling gait, Bradykinesia, Lewy bodies,... ORPHA:411602
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Myoclonic spasms, Poor motor coordination, Motor deterioration, Bilateral t... ORPHA:79264
Microcephaly 17, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Seizure, Bulbous nose, Spasticity, Agenesis of corp... OMIM:617090
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Rigidity, Cognitive impairment, Frontal lobe dementia, Bradyk... ORPHA:2828
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Seizure, Polymicrogyria, EEG abnormality, Spasticity, Abnormal pyrami... OMIM:614833
Rett Syndrome, Congenital Variant
Athetosis, Dystonia, Depressed nasal bridge, Chorea, Tongue thrusting, Poor eye contact, Simplifi... OMIM:613454
Cerebral Palsy, Spastic Quadriplegic, 3
Cognitive impairment, Spastic tetraplegia, Seizure, Spastic diplegia, Spasticity, Gray matter het... OMIM:617008
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Focal tonic seiz... ORPHA:485350
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Seizure, Hypertonia, Hyperactivity, Cerebral atrophy, Agenesis of corpus callosum, M... OMIM:274270
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:289266
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Seizure, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type II li... ORPHA:352682
Aminoacylase 1 Deficiency
Seizure, Hyperactivity, Wide nasal bridge, Cerebral atrophy OMIM:609924
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Choreoathetosis, Flared nostrils, Wide nasal bridge, Seizure, Basal ganglia cysts, Epis... OMIM:312170
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Dementia, Gait disturbance, Frequent falls, Dysmetria, Chorea,... ORPHA:157941
Huntington Disease
Dementia, Rigidity, Chorea, Gliosis, Bradykinesia, Seizure, Gait ataxia OMIM:143100
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Seizure, Hyperactivity, Inability to walk, EEG abnormality, Spasticity, Micro... OMIM:618718
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Myoclonus, Cerebral cortical atrophy, Hypsarrhythmia, Seizure, Spasticity, Agenesis of ... OMIM:617669
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Abnormality of pain sensation, Eating-induced seizure, Tremo... ORPHA:544254
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Prominent nasal bridge, Hyperactivity, Stereotypical body rocking, Recurrent h... OMIM:309548
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Hemiparesis, Seizure, EEG abnormality, Mental deterioration, Lethargy OMIM:613002
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... OMIM:619092
Autism, Susceptibility To, 3
Impaired use of nonverbal behaviors, Stereotypy, Seizure, Impaired ability to form peer relations... OMIM:608049
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordination, Bilateral... ORPHA:86909
Mental Retardation, Autosomal Dominant 43
Wide nasal bridge, Prominent nasal bridge, Seizure, Hyperactivity, Cerebral atrophy, Hypoplasia o... OMIM:616977
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Gait disturbance, Gliosis, Tremor, Seizure, Hyperkinetic movem... OMIM:300957
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dysgenesis of the hippocampus, Torticollis, Spastic ataxia, Stereotypy, Seizure, Polymicrogyria, ... ORPHA:300570
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Poor motor coordination, Caudate atrophy, Cognitive impair... ORPHA:363400
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Periventricular heterotopia, Corticospinal tract hypoplasia, Seizure, Atax... ORPHA:255138
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Cerebral palsy, Wide nasal bridge, Stereotypy, Repetitive compulsive behavio... ORPHA:352490
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Agenesis of corpus callosum, Microlissencephaly, Wide nose, Wi... ORPHA:89844
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Neurofibrillary tangles, Myoclonus, Seizure, Oculomotor apraxia, Hyp... ORPHA:1020
Lamb-Shaffer Syndrome
Broad nasal tip, Stereotypy, Seizure, Ataxia, Hyperactivity, Upper motor neuron dysfunction, Abno... ORPHA:530983
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Spasticity... OMIM:612716
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Seizure, Posterior predominant thick cortex pachygyria, Agyria,... ORPHA:95232
Obesity, Hyperphagia, And Developmental Delay
Seizure, Poor eye contact, Stereotypy OMIM:613886
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Spastic gait, Lower... OMIM:604360
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Steppage gait, Positive Romberg sign, Vocal cord pares... OMIM:601152
Alg11-Cdg
Limb hypertonia, Opisthotonus, Cerebral white matter atrophy, Abnormal cerebral white matter morp... ORPHA:280071
Congenital Muscular Dystrophy Without Intellectual Disability
Frequent falls, Pachygyria, Tip-toe gait, Abnormal cerebral white matter morphology, Gray matter ... ORPHA:370980
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Dysplastic corpus callosum, Leukoencephalopathy, Bradykinesia, Spastic tetraparesis, Se... OMIM:614924
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Short nose, Poor eye contact, Stereotypy, Stereotypical body rocking, Anteverted n... OMIM:300912
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Increased theta frequency activity in EEG, Bilateral ... ORPHA:98784
Chromosome 3Q29 Deletion Syndrome
Prominent nasal bridge, Stereotypy, Hyperactivity, Gait ataxia, Microcephaly OMIM:609425
Mental Retardation, Autosomal Dominant 48
Prominent nasal bridge, Stereotypy, Seizure, Low hanging columella, Polymicrogyria, Anteverted na... OMIM:617751
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Dystonia, Rigidity, Abnormal globus pallidus morphology, Bradykinesia, Astrocyt... ORPHA:309854
Fraxe Intellectual Disability
Clumsiness, Prominent nasal bridge, Stereotypical body rocking, Hyperactivity, Recurrent hand fla... ORPHA:100973
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Poor eye contact, Stereotypy, Seizure, Underdeveloped nasal alae, Depressed nasa... ORPHA:457351
Mucolipidosis Iv
Dystonia, Babinski sign, Dysplastic corpus callosum, Progressive neurologic deterioration, Spasti... OMIM:252650
Developmental And Epileptic Encephalopathy 87
Prominent nose, Infantile spasms, Hypsarrhythmia, Seizure, Hypertonia, Bulbous nose, Cerebral atr... OMIM:618916
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... OMIM:610245
Peroxisome Biogenesis Disorder 9B
Ataxia, Anosmia OMIM:614879
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Rigidity, Periventricular heterotopia, Spastic tetraplegia, Seizure, Ataxia, Spasticity, Abnormal... OMIM:618476
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Seizure, Spasticity, Anteverted nares, Recurrent hand flapping, Hypoplasia of the corpus callosum... OMIM:618859
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Ataxia, Status epilepticus, Hyperactivity, Hyperkinetic ... OMIM:271980
Apnea, Obstructive Sleep
Anosmia, Focal impaired awareness seizure OMIM:107650
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure... ORPHA:382
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Seizure, Gray matter heterotopia OMIM:300049
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Perisylvian polymicrogyria, Hypoplastic anterior limbs of the inter... OMIM:615673
Intellectual Developmental Disorder, Autosomal Recessive 39
Prominent nose, Hyperactivity, Microcephaly, Stereotypy OMIM:615541
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Christianson Syndrome
Dystonia, Stereotypy, Abnormality of the nose, Generalized-onset seizure, Truncal ataxia, Aplasia... ORPHA:85278
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity, Depressed nasal bridge ORPHA:85288
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Seizure, H... OMIM:618877
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Ck Syndrome
Abnormal cerebral cortex morphology, Prominent nasal bridge, Seizure, Pachygyria, Hyperactivity, ... ORPHA:251383
Autosomal Recessive Cutis Laxa Type 2A
Athetosis, Dystonia, Dysplastic corpus callosum, Focal impaired awareness seizure, Prominent nasa... ORPHA:357058
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Stereotypy, Seiz... OMIM:614104
Developmental And Epileptic Encephalopathy 2
Infantile spasms, Myoclonus, Multifocal seizures, Poor eye contact, Hypsarrhythmia, Stereotypy, S... OMIM:300672
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cognitive impairment, Astrocytosis, Seizure, Pachygyria, Inability to walk, Cerebral edema, Focal... ORPHA:258
Microcephaly 26, Primary, Autosomal Dominant
Febrile seizure (within the age range of 3 months to 6 years), Dysplastic corpus callosum, Short ... OMIM:619179
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Gait disturbance, Dystonia, Abnormality of peripheral nerve conduction, C... ORPHA:35069
Mental Retardation, Autosomal Recessive 41
Seizure, Broad nasal tip, Stereotypy OMIM:615637
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Focal-onset seizure, Ante... ORPHA:1934
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy, Seizure, Attention deficit hyperactivity disorder, Microcephaly OMIM:618906
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... ORPHA:255
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Poor eye contact, Stereotypy, Seizure, Spasticity, Unsteady gait, Gait ataxia, Difficul... OMIM:617807
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance, Short nose, Seizure, Microcephaly ORPHA:3307
Xq28 (MECP2) duplication
Progressive spasticity, Depressed nasal bridge, Stereotypy, Seizure, Inability to walk, Hypoplasi... DECIPHER:45
Mental Retardation, Autosomal Recessive 61
Babinski sign, Prominent nose, Hyperactivity, Bulbous nose, EEG abnormality, Spasticity, Secondar... OMIM:617773
Potocki-Lupski Syndrome
Prominent nasal tip, Poor eye contact, Stereotypy, Seizure, Hyperactivity, EEG abnormality, Hypop... OMIM:610883
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Absent brainstem auditory responses, Decreased nerve conduction velocity... OMIM:609136
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration, Seizure, Abnormal nasal bridge morphology OMIM:614887
Mental Retardation With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose, Speech apraxia, Stereotypy, Attention deficit hyperactivity disorder OMIM:613670
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Tonic seizure, Choreoathetosis, Bilateral tonic-clonic seizure, My... OMIM:619580
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Periventricular heterotopia, Prominent nasal bridge, Seizure, Attention d... OMIM:618974
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia, Microcephaly OMIM:302950
Acromelic Frontonasal Dysostosis
Broad nasal tip, Periventricular nodular heterotopia, Wide nasal bridge, Bifid nose, Seizure, Hyp... OMIM:603671
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Seizure, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:164180
Fragile X Syndrome
Seizure, Hyperactivity, Poor eye contact, Periventricular heterotopia OMIM:300624
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Tongue thrusting, Corpus callosum atrophy, Generalized-onset seizure, Spasti... ORPHA:77299
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Seizure, Anosmia OMIM:610628
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Depressed nasal bridge, Seizure, Bulbous nose, EEG abnormality, Cerebral atrophy, Anteverted nare... OMIM:617268
Radio-Tartaglia Syndrome
Prominent nasal tip, Gait imbalance, Depressed nasal bridge, Poor eye contact, Prominent nasal br... OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Depressed nasal bridge, Rigidity, Tonic seizure, Chorea, Lower limb spast... OMIM:300260
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Simplified gyral pattern, Tremor, Seizure, Hyperactivity, Bulbous nose, P... OMIM:300354
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Dysmetria, Myoclonus, Seizure, Ataxia, Agenesis of corpus callosum OMIM:250620
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Bilateral tonic-clonic seizure, Gliosis, Stereotypy, Tre... ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Hyperactivity, Depressed nasal bridge, Microcephaly OMIM:300434
Kallmann Syndrome
Gait disturbance, Paraplegia, Seizure, Ataxia, Tremor, Hypothalamic gonadotropin-releasing hormon... ORPHA:478
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Limb hypertonia, Paraparesis, Seizure, Focal sensory seizure, ... ORPHA:98889
Ck Syndrome
Prominent nasal bridge, Seizure, Pachygyria, Hyperactivity, Polymicrogyria, Microcephaly OMIM:300831
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Stereotypy, Seizure, Tetraparesis, Hypoplasia of the corpus callosum, Cerebral cortic... ORPHA:85277
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Anosmia, Hyposmia OMIM:612702
Shukla-Vernon Syndrome
Wide nasal base, Stereotypy, Seizure, Broad-based gait, Attention deficit hyperactivity disorder OMIM:301029
Joubert Syndrome
Abnormality of neuronal migration, Gait disturbance, Prominent nasal bridge, Tremor, Oculomotor a... ORPHA:475
Meningioma
Hypothalamic hypothyroidism, Focal T2 hypointense thalamic lesion, Seizure, Focal-onset seizure, ... ORPHA:2495
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Depressed nasal bridge, Seizure, Hyperactivity, Spasticity, Decreased response to growth hormone ... OMIM:615286
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Seizure, Anosmia OMIM:244200
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge, Cerebral calcification ORPHA:377
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly OMIM:236795
Holoprosencephaly
Abnormality of neuronal migration, Dystonia, Depressed nasal ridge, Chorea, Cognitive impairment,... ORPHA:2162
Refsum Disease, Classic
Ataxia, Anosmia, Somatic sensory dysfunction OMIM:266500
Lissencephaly, X-Linked, 2
Gliosis, Prominent nasal bridge, Wide nasal bridge, Seizure, Pachygyria, Spasticity, Lissencephal... OMIM:300215
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Depressed nasal bridge, Dysplastic corpus callosum, Ster... OMIM:619103
Hydrolethalus
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Abnormality of the sense of smell, Agenes... ORPHA:2189
Cockayne Syndrome Type 3
Narrow nose, Abnormality of peripheral nerve conduction, Cerebral white matter atrophy, Cognitive... ORPHA:90324
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Babinski sign, Progressive psychomotor deterioration, Dementia, Dystonia, Punctate pe... ORPHA:309271
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Seizure, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait, Cessation of head growth ORPHA:411515
Lissencephaly 7 With Cerebellar Hypoplasia
Seizure, Agyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:616342
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Absent septum pellucidum, Seizure, Anterior pituitary hypoplasia, Anosmia,... ORPHA:3157
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hyposmia OMIM:615267
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Babinski sign, Progressive psychomotor deterioration, Dystonia, Punctate periventricu... ORPHA:309263
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Seizure, Hyperactivity, Secondary mi... ORPHA:98794
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Wide nasal bridge, Seizure, EEG abnormality, Anteverted nares ORPHA:44
Leber Congenital Amaurosis
Abnormality of neuronal migration, Seizure, Hemiplegia/hemiparesis ORPHA:65
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Seizure, Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum OMIM:619466
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Indifference To Pain, Congenital, Autosomal Recessive
Painless fractures due to injury, Pain insensitivity, Anosmia, Hyposmia OMIM:243000
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Short nose, Seizure, Hypertonia, Anteverted nares, Choanal atr... ORPHA:1895
Bardet-Biedl Syndrome 17
Cognitive impairment, Anosmia, Hyposmia, Poor coordination OMIM:615994
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Babinski sign, Abnormal periventricular white matter morpholog... OMIM:608840
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Seizure, Hyperactivity, Broad-based gait, Spasticity, Hypoplasia of the corpus callosum, Cortical... ORPHA:457260
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Agenesis of corpus callosum OMIM:147950
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Depressed nasal bridge, Rigidity, ... ORPHA:35107
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Neurodegeneration With Brain Iron Accumulation 2B
Babinski sign, Dystonia, Dysmetria, Chorea, Bradykinesia, Lewy bodies, Intention tremor, Seizure,... OMIM:610217
5Q14.3 Microdeletion Syndrome
Short nose, Stereotypy, Seizure, Frontal cortical atrophy, Anteverted nares, Hypoplasia of the co... ORPHA:228384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Seizure, Spasticity, Gray matter heterotopia, Type II lissencephaly, Cortical dyspla... OMIM:615287
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614838
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Bilateral tonic-clonic seizure, Short nose, Prominent nasal bridge, Seizure, Hyperact... OMIM:300558
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum... ORPHA:2512
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Distal sensory impairment, Anosmia, Hyposmia OMIM:608720
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Prominent nasal bridge, Seizure, Bulbous nose, Small basal ganglia, P... OMIM:616900
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Cognitive impairment, Seizure, Pachygyria, Hypertonia, EEG abn... ORPHA:2065
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Tongue th... ORPHA:98795
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Wide nasal bridge, Seizure, Hypertonia, Anteverted nares, Cere... ORPHA:2518
Rett Syndrome
Gait disturbance, Dystonia, Limb apraxia, Bradykinesia, Stereotypy, Seizure, Primary microcephaly... ORPHA:778
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Ataxia, Hypothalamic gonadotropin-releasing hormone deficiency, Olfactory lobe agenesis, Anosmia,... OMIM:308700
Microhydranencephaly
Athetosis, Hydranencephaly, Prominent nasal bridge, Spastic tetraplegia, Pachygyria, Generalized ... OMIM:605013
Refsum Disease
Abnormal pyramidal sign, Anosmia, Ataxia, Hemiplegia/hemiparesis ORPHA:773
Kohlschutter-Tonz Syndrome-Like
Stereotypy, Seizure, Focal-onset seizure, Generalized tonic seizure, Nocturnal seizures, Multifoc... OMIM:619229
Pick Disease Of Brain
Frontotemporal dementia, Gliosis, Stereotypy OMIM:172700
Kallmann Syndrome With Spastic Paraplegia
Ataxia, Hypothalamic gonadotropin-releasing hormone deficiency, Olfactory lobe agenesis, Spastic ... OMIM:308750
Adenylosuccinase Deficiency
Opisthotonus, Myoclonus, Short nose, Poor eye contact, Seizure, Hyperactivity, Inability to walk,... OMIM:103050
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Wide nasal bridge, Seizure, Hyperactivity, Bulbous nose, Broad-based gait, Spasticity, Anteverted... OMIM:300958
Blepharophimosis-Impaired Intellectual Development Syndrome
Underdeveloped nasal alae, Recurrent bronchitis, Wide nose, Wide nasal bridge, Narrow nasal ridge... OMIM:619293
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure, Microcephaly, Cerebral atrophy OMIM:300337
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... ORPHA:139396
Angelman Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonus, Tongue thrusting, Poor eye contact, ... ORPHA:72
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Broad nasal tip, Short nose, Prominent nasolabial fold, Repetitive compulsive b... ORPHA:391372
Mental Retardation, Autosomal Recessive 13
Wide nasal bridge, Seizure, Hyperactivity, Secondary microcephaly, Hypoplasia of the corpus callosum OMIM:613192
Cerebral Creatine Deficiency Syndrome 1
Gait disturbance, Dystonia, Poor hand-eye coordination, Stereotypy, Seizure, Attention deficit hy... OMIM:300352
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Hair-pulling, Myoclonic spasms, Depressed nasal bridge, Bilateral tonic-clonic seizure, I... ORPHA:447997
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Cognitive impairment, Stereotypy, Seizure, Ataxia, Microcephaly, Lethargy ORPHA:927
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Babinski sign, Dystonia, Punctate periventricular T2 hyperintense foci, Frequent fall... ORPHA:309256
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Prominent nasal bridge, Stereotypy, Seizure, Low hanging columella, Polymicrogyria, Anteverted na... ORPHA:500159
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell, Microcephaly ORPHA:3201
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Short nose, Hyperactivity, Tics, Hypertonia, Broad columella, Progressive... OMIM:617865
Early-Onset Schizophrenia
Unhappy demeanor, Suicidal ideation, Cognitive impairment, Irritability, Anhedonia, Emotional lab... ORPHA:96369
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Solitary Median Maxillary Central Incisor
Midnasal stenosis, Decreased response to growth hormone stimulation test, Pyriform aperture steno... OMIM:147250
Hyperphosphatasia With Mental Retardation Syndrome 6
Prominent nasal tip, Depressed nasal bridge, EEG with multifocal slow activity, Seizure, Hyperact... OMIM:616809
Smith-Magenis Syndrome
Impaired pain sensation, Wide nasal bridge, Stereotypy, Seizure, Hyperactivity, EEG abnormality OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy OMIM:618504
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Infantile spasms, Tonic seizure, Hypsarrhythmia, Seizure, Hyperactivity, EEG with burst suppressi... OMIM:619239
Amoebiasis Due To Free-Living Amoebae
Abnormal cerebral cortex morphology, Abnormal hypothalamus morphology, Encephalomalacia, Hemipare... ORPHA:68
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Poor eye contact, Stereotypy, Seizure, Attention deficit hyperactivity disorder, Hyperac... ORPHA:449291
Alazami-Yuan Syndrome
Prominent nose, Underdeveloped nasal alae, Prominent nasal bridge, Hyperactivity, Microcephaly OMIM:617126
Optic Atrophy 11
Dysmetria, Leukoencephalopathy, Ataxia, Hyperactivity, Hyperkinetic movements, Microcephaly OMIM:617302
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Spastic gait, Spastic tetrapl... OMIM:619121
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait disturbance, Multifocal cerebral white matter abnormalities, Gait imbalance, Dysplastic corp... ORPHA:488627
Snijders Blok-Campeau Syndrome
Prominent nose, Wide nasal bridge, Speech apraxia, Stereotypy, Broad-based gait, Unsteady gait OMIM:618205
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Aural Atresia, Congenital
Hyposmia OMIM:607842
Musk, Inability To Smell
Anosmia OMIM:254150
Congenital Muscular Dystrophy With Cerebellar Involvement
Clonus, Diffuse white matter abnormalities, Agenesis of corpus callosum, Seizure, Polymicrogyria,... ORPHA:370959
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
2Q23.1 Microdeletion Syndrome
Stereotypy, Seizure, Ataxia, Hyperactivity, Microcephaly ORPHA:228402
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Stereotypy, Tremor, Seizure, Agenesis of corpus callosum ORPHA:238750
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Dysmetria, Wide nose, Intention tremor, Ataxia, Anteverted nares, Bul... ORPHA:314647
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Vocal cord paraly... ORPHA:500144
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Anosmia OMIM:614837
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Gliosis, Cerebral cortical atrophy, Lewy bodies, Repetitive compulsive b... OMIM:607485
Johnson Neuroectodermal Syndrome
Anosmia, Choanal atresia, Bulbous nose, Microcephaly ORPHA:2316
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Seizure, Cognitive impairment, Depressed nasal bridge ORPHA:93274
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Prominent nasal bridge, Seizure, Ataxia, Aplasia/Hypoplasia of... ORPHA:2318
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Tongue thrusting, Seizure, Ataxia, Secondary microcephaly, EEG abnormality, Broad... ORPHA:411511
Pseudo-Torch Syndrome 2
Seizure, Polymicrogyria, Cerebral calcification, Gray matter heterotopia, Microcephaly, Lethargy OMIM:617397
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, Underdeveloped nasal alae, Stereotypy, Seizure, Ataxia, Hypertonia, Attention d... OMIM:300986
Vici Syndrome
Seizure, Depressed nasal tip, EEG abnormality, Gray matter heterotopia, Agenesis of corpus callos... ORPHA:1493
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Babinski sign, Spasticity, Stereotypy OMIM:612069
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Prominent nasal tip, EEG with series of focal spikes, Choreoathetosis, Chorea, Short no... ORPHA:522077
Bainbridge-Ropers Syndrome
Underdeveloped nasal alae, Long nose, Prominent nasal bridge, Seizure, Low hanging columella, Ina... ORPHA:352577
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Absent septum pellucidum, Seizure,... ORPHA:899
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Depressed nasal bridge, Short nose, Hypertonia, Generalized-on... ORPHA:261236
Man1B1-Cdg
Underdeveloped nasolabial fold, Prominent nose, Periventricular heterotopia, Wide nose, Wide nasa... ORPHA:397941
3P25.3 Microdeletion Syndrome
Prominent nose, Depressed nasal bridge, Bilateral tonic-clonic seizure, Cerebral white matter atr... ORPHA:435638
Johnson Neuroectodermal Syndrome
Anosmia, Microcephaly, Choanal stenosis OMIM:147770
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Microcephaly ORPHA:2204
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Seizure, Frontal cortical atrophy, Abnormal hippocampus morp... ORPHA:2388
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Short nose, Seizure, Oculomotor apraxia, Anteverted nares, Aplasia/Hypopl... OMIM:617822
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Simplified gyral pattern, Seizure, Bulbous nose, Gray matter heterotopia, Lissencep... OMIM:615219
Parkinson Disease 1, Autosomal Dominant
Gait disturbance, Dementia, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Gliosis,... OMIM:168601
Smith-Magenis Syndrome
Gait disturbance, Depressed nasal bridge, Impaired pain sensation, Short nose, Wide nasal bridge,... ORPHA:819
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Seizure, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Di... ORPHA:531151
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Depressed nasal ridge, Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Coffin-Siris Syndrome 6
Broad nasal tip, Depressed nasal bridge, Stereotypy, Tics, Periventricular leukomalacia, Attentio... OMIM:617808
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Optic Atrophy-Intellectual Disability Syndrome
Short nasal bridge, Prominent nasal bridge, Repetitive compulsive behavior, Seizure, Spasticity, ... ORPHA:401777
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Inverted Duplicated Chromosome 15 Syndrome
Broad nasal tip, Stereotypy, Seizure, Hyperactivity, Microcephaly ORPHA:3306
Congenital Hypothyroidism
Depressed nasal ridge, Anosmia, Paresthesia, Anterior hypopituitarism ORPHA:442
Phelan-Mcdermid Syndrome
Impaired pain sensation, Tongue thrusting, Poor eye contact, Concave nasal ridge, Stereotypy, Sei... OMIM:606232
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Seizure, Attention ... ORPHA:261197
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Gand Syndrome
Hyperactivity, Tics, Broad nasal tip, Wide nasal bridge OMIM:615074
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Depressed nasal bridge, Megalencephaly, Abnormal corpus callosum morphology, Se... ORPHA:457485
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Short nose, Stereotypy, Seizure, Bulbous nose, Agenesis of corpus callosu... ORPHA:261144
Pyruvate Carboxylase Deficiency
Dystonia, Infantile spasms, Cerebellar gliosis, Periventricular cysts, Hyperintensity of cerebral... ORPHA:3008
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Stereotypy, Seizure, Polymicrogyria, Cerebral atrophy, Cerebral hypoplasia, Abnormal pyramidal si... ORPHA:468631
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Wide nose, Aplasia/Hypoplasia of the corpus callosum, Underdev... ORPHA:284160
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Prominent nose, Stereotypy, Hyperactivity, Abnormal cerebral white matter morphology, Hypoplasia ... ORPHA:391307
Miller-Dieker Lissencephaly Syndrome
Midline brain calcifications, Infantile spasms, Short nose, Wide nasal bridge, Seizure, Pachygyri... OMIM:247200
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Ster... ORPHA:217253
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Cognitive impairment, Aggressive behavior, Hyperactivity, Attention d... ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Prominent nose, Long nose, Stereotypy, Seizure, Hyperactivity, Spasticity, Gait ataxia OMIM:300486
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Depressed nasal bridge, Infantile spasms, Anteverted nares, Spasticity, Cerebral atrophy, Gray ma... OMIM:618797
Intellectual Developmental Disorder, Autosomal Dominant 64
Depressed nasal bridge, Periventricular nodular heterotopia, Seizure, Hypertonia, Bulbous nose, A... OMIM:619188
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hemiparesis, Seizure, Unst... OMIM:617542
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, Seizure, EEG abnormality, Hemiparesis ORPHA:2481
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Stereotypy, Broad-based gait, Anteverted nares, Secondary microce... OMIM:616351
Niemann-Pick Disease, Type C2
Dystonia, Dementia, Cataplexy, Stereotypy, Seizure, Ataxia, Spasticity, Neurofibrillary tangles OMIM:607625
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Short nose, Seizure, Ataxia, Hypertonia, Hyperactivity, Anteverted nares, D... OMIM:601853
Chromosome 5P13 Duplication Syndrome
Wide nasal bridge, Stereotypy, Seizure, Bulbous nose, Agenesis of corpus callosum OMIM:613174
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Non-convulsive status epilepticus without coma, Dysplastic corpus callos... ORPHA:544488
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Periventricular heterotopia, Dysmetria, Colpocephaly, Abnormal... ORPHA:75857
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
48,Xxyy Syndrome
Stereotypy, Tremor, Ataxia, Seizure, Attention deficit hyperactivity disorder ORPHA:10
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Oculomotor apraxia, Abnormal periventricular white matter morphology OMIM:615960
Chiari Malformation Type Ii
Gray matter heterotopia, Ataxia, Opisthotonus, Agenesis of corpus callosum OMIM:207950
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Short nose, Wide nasal bridge, Stereotypy, Seizure, Hyperactivity, Anteverted na... OMIM:615873
Niemann-Pick Disease Type C
Clumsiness, Cataplexy, Progressive neurologic deterioration, Progressive gait ataxia, Seizure, Fr... ORPHA:646
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Abnormality of the nares ORPHA:1295
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Seizure, Intracerebral periventricular calcifications, Basal g... OMIM:608836
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia, Hypothalamic gonadotropin-releasing hormone deficiency OMIM:618841
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Gait disturbance, Prominent nasal bridge, Tremor, Oculomotor a... ORPHA:1454
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:496641
Macrocephaly-Developmental Delay Syndrome
Seizure, Wide nasal bridge, EEG with generalized slow activity, Stereotypy ORPHA:397612
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Chorea, Seizure, Ataxia, Hypertonia, Hyperactivity, Microcephaly ORPHA:52503
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Depressed nasal bridge, Short nose, Wide nasal bridge, Multifocal epileptiform discharges, Ataxia... ORPHA:369891
Joubert Syndrome 30
Gray matter heterotopia, Seizure OMIM:617622
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Interictal epileptiform activity, Polymicrogyria, Broad-base... OMIM:618918
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Periventricular nodular heterotopia, Prominent nasal bridge, Wide nasal bridge, Seizure, Low hang... OMIM:618659
Even-Plus Syndrome
Depressed nasal ridge, Dysplastic corpus callosum, Short nose, Bifid nasal tip, Agenesis of corpu... OMIM:616854
Coffin-Lowry Syndrome
Progressive spasticity, Abnormality of neuronal migration, Gait disturbance, Depressed nasal brid... ORPHA:192
Ritscher-Schinzel Syndrome 4
Athetosis, Dysgenesis of the hippocampus, Bilateral tonic-clonic seizure, Chorea, Wide nasal brid... OMIM:619435
22Q11.2 Duplication Syndrome
Depressed nasal ridge, Wide nose, Stereotypy, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:1727
8P11.2 Deletion Syndrome
Seizure, Anosmia, Depressed nasal bridge, Microcephaly ORPHA:251066
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Seizure, Cognitive impairment ORPHA:2063
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Tetraplegia, Hyperactivity, Corpus callosum atrophy, Microcephaly,... ORPHA:369939
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Cri-Du-Chat Syndrome
Wide nasal bridge, Stereotypy, Hyperactivity, Hypertonia, Overfriendliness, Difficulty walking, M... OMIM:123450
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Microcephaly ORPHA:2772
Oculocerebrodental Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Focal white matter lesions... ORPHA:557003
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Infantile spasms, Periventricular heterotopia, Focal impaired awareness s... OMIM:618929
Megalocornea-Intellectual Disability Syndrome
Wide nasal bridge, Stereotypy, Seizure, Ataxia, EEG abnormality, Microcephaly ORPHA:2479
Thanatophoric Dysplasia
Gray matter heterotopia, Seizure, Depressed nasal bridge ORPHA:2655
Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Opisthotonus, Agenesis of corpus callosum, Paraplegia, P... ORPHA:1136
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dementia, Dystonia, Cerebral degeneration, Rigidity, Choreoatheto... OMIM:234200
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Impaired pain sensation, Microcephaly, Stereotypy OMIM:616579
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Wide nasal bridge, Ataxia, Bilateral choanal atresia/stenosis, Gray m... ORPHA:314679
Angelman Syndrome
Clumsiness, Limb tremor, Progressive gait ataxia, Seizure, Hyperactivity, EEG abnormality, Broad-... OMIM:105830
Developmental And Speech Delay Due To Sox5 Deficiency
Seizure, Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Distal Xq28 Microduplication Syndrome
Broad nasal tip, Epistaxis, Poor eye contact, Stereotypical body rocking, Recurrent upper respira... ORPHA:293939
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Abnormal corpus callosum morphology, Stereotypy, Seizure, Ataxia, Cavum septum pelluc... ORPHA:457279
Acalvaria
Abnormality of neuronal migration ORPHA:945
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Underdeveloped nasal alae, Depressed nasal bridge, Stereotypy, Low hanging columella, Anteverted ... OMIM:618825
Hyperlysinemia