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 6.06×10-05

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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 Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 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
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Abnormality of neuronal migration... ORPHA:163681
Pitt-Hopkins-Like Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Hyperactivity, EEG ab... OMIM:610042

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Schizophrenia 19
Cognitive impairment OMIM:617629
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Emotional lability, Attention defi... ORPHA:280397
Behavioral Variant Of Frontotemporal Dementia
Restlessness, Frontotemporal dementia, Echolalia, Frontotemporal cerebral atrophy, Disinhibition,... ORPHA:275864
Spinocerebellar Degeneration With Slow Eye Movements
Gait disturbance, Cognitive impairment OMIM:271322
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, EEG with focal slow activity, Abnormality of neuronal migration, Seizure... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Seizure, Thin corpus callosum, Agyria, Lissencephaly, Subcortical band h... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Myoclonic seizure, Generalized-onset seizure, Delayed speech and language development, Hypsarrhyt... OMIM:618677
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Memory impairment, Difficulty walking, Dementia ORPHA:85292
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Gray matter heterotopia, Generalized-onset seizure, Hyperactivity, Abnormality of neuronal migrat... OMIM:604317
Microlissencephaly
Subcortical heterotopia, Cerebral cortical atrophy, Periventricular heterotopia, Simplified gyral... ORPHA:1083
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Focal cortical dysplasia type II, Cognitive impairment, Focal impaired awaren... OMIM:607341
Lissencephaly 3
Gray matter heterotopia, Generalized tonic seizure, Seizure, Agyria, Lissencephaly, Ataxia, Bilat... OMIM:611603
Huntington Disease
Inability to walk, Choking episodes, Difficulty walking, Speech articulation difficulties, Alcoho... ORPHA:399
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Seizure, Hypsarrhythmia, Agyria, EEG with changes in voltage, Pachygyria... ORPHA:1084
Schizophrenia 15
Hyperactivity OMIM:613950
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Seizure, Hypsarrhythmia, Periventricular nodular heterotopia, Progre... OMIM:608097
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Abnormality of neuronal migration, Ataxia, Abnormal corpus callosum morphology, Attentio... OMIM:618709
Periventricular Nodular Heterotopia 6
Seizure, Focal motor seizure, Hypsarrhythmia, Delayed speech and language development, Periventri... OMIM:615544
Hemimegalencephaly
Hemimegalencephaly, Gray matter heterotopia, Seizure, Hyperintensity of cerebral white matter on ... ORPHA:99802
Sporadic Creutzfeldt-Jakob Disease
Cognitive impairment, Hyperintensity of cerebral white matter on MRI, Hypsarrhythmia, Myoclonus, ... ORPHA:204
Lissencephaly 1
Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Abnormal cerebral white matter morpholog... OMIM:607432
Symmetrical Thalamic Calcifications
Cognitive impairment, Abnormality of neuronal migration, EEG abnormality, Seizure, Cerebral calci... ORPHA:1314
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Seizure, Inability to walk, Periventricular nodular heterotopia, Absent speech, Microcephaly OMIM:618572
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Seizure, Agyria, Lissencephaly, Ataxia, Pachygyria, Agenesis of corpus c... OMIM:300067
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration, EEG abnormality ORPHA:2149
Periventricular Nodular Heterotopia 8
Delayed speech and language development, Reduced cerebral white matter volume, Seizure, Periventr... OMIM:618185
Familial Infantile Bilateral Striatal Necrosis
Gait ataxia, Basal ganglia gliosis, Delayed speech and language development, Myoclonus, Atrophy/D... ORPHA:225154
Polymicrogyria Due To Tubb2B Mutation
Gray matter heterotopia, Perisylvian polymicrogyria, Cognitive impairment, Lateral ventricle dila... ORPHA:300573
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Seizure, Simplified gyral pattern, Delayed speech and language development, Thin corpus callosum,... OMIM:614039
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Delayed speech and language development, Microcephaly, Bruxism OMIM:615493
Chudley-Mccullough Syndrome
Gray matter heterotopia, Seizure, Partial agenesis of the corpus callosum, Hypoplasia of the corp... OMIM:604213
Foxg1 Syndrome
Cognitive impairment, Inability to walk, Impaired social interactions, Stereotypical hand wringin... ORPHA:561854
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Frontotemporal dementia, Cerebral cortical atrophy, Myoclonus, Disinhibition, Gait ... OMIM:600795
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Prominent nose, Seizure, Inability to walk, Simplified gyral pattern, Delayed speech and language... OMIM:618492
Isolated Focal Cortical Dysplasia
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Cognitive impairment,... ORPHA:65683
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, EEG with series of focal spikes, Inability to walk, Focal-onset seizure, Atoni... ORPHA:168491
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Cognitive impairment, Paresthesia, Focal-onset seizure, Hypsarrhythmia, Inter... ORPHA:98820
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Delayed speech and language development, Hyperactivity, Seizure, Bruxism ORPHA:356996
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Generalized-onset seizure, Seizure, Lissencephaly, Partial agenesis of the corpus callosum, Infan... OMIM:610031
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Seizure, Simplified gyral pattern, Delayed speech and language development... OMIM:608716
Landau-Kleffner Syndrome
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... ORPHA:98818
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Anxiety, Mental ... OMIM:619191
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Seizure, Compulsive behaviors, Abnormal cerebral white matter morphology, Mild malformation of co... ORPHA:500166
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Seizure, EEG abnormality, Falls, Focal-onset seizure, Delayed speech and language develop... OMIM:619150
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Myoclonic seizure, Chorea, Seizure, EEG abnormality, Stereotypical hand wringing, Inability to wa... OMIM:614254
Inherited Creutzfeldt-Jakob Disease
Gait ataxia, Chorea, Seizure, Progressive cerebellar ataxia, EEG with persistent abnormal rhythmi... ORPHA:282166
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Seizure, Wide nasal bridge, Inability to walk, Absent speech, Megalencephaly, Difficulty walking,... OMIM:611087
Maternal Hyperthermia-Induced Birth Defects
Cognitive impairment, Seizure, Abnormality of neuronal migration, EEG abnormality, Microcephaly ORPHA:2216
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Cerebral cortical a... OMIM:301008
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Absent speech, Bilateral tonic-clonic seizure, Infantile spasms, Dysplas... ORPHA:250972
Progressive Non-Fluent Aphasia
Restlessness, Lewy bodies, Frontotemporal dementia, Memory impairment, Frontotemporal cerebral at... ORPHA:100070
Developmental And Epileptic Encephalopathy 97
Seizure, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia, Delayed speech and langu... OMIM:619561
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Abnormality of neuronal migration... ORPHA:163681
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Cerebral cortical atrophy, Recurrent hand flapping, Absent speech, Progressive micro... OMIM:617862
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Delayed speech and language development, Pseudobulbar paralysis, Bilateral ... OMIM:300388
Subependymal Nodular Heterotopia
Gray matter heterotopia, Limb myoclonus, Abnormality of neuronal migration, Seizure, Focal-onset ... ORPHA:101030
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... OMIM:600512
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized tonic seizure, Occipital cortical atrophy, Inability to walk, Hypsarrhythmia, Multifo... ORPHA:411986
Leber Congenital Amaurosis 10
Seizure, Hyposmia OMIM:611755
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoathe... OMIM:618497
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Seizure, Periventricular heterotopia, Inability to walk, Simplified gyral pattern, Thick corpus c... OMIM:618273
Macrocephaly, Acquired, With Impaired Intellectual Development
Seizure, Delayed speech and language development, Thin corpus callosum, Narrow nasal bridge, Impu... OMIM:618286
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Seizure, Overfriendliness, Primary microcephaly OMIM:618010
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Simplified gyral pattern, Myoclonus, Generalized myoclonic seizure, Status epileptic... OMIM:616540
Lissencephaly 4
Seizure, Wide nasal bridge, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Agenes... OMIM:614019
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure with focal onset, Stereotypical hand wringing, Hypsarrhythmia, Abs... OMIM:616056
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Hypsarrhythmia, Recurrent hand flapping, Generalized myoclonic seizure, Gait dis... OMIM:618141
Cdkl5-Deficiency Disorder
Generalized tonic seizure, Stereotypical hand wringing, Focal-onset seizure, Multifocal epileptif... ORPHA:505652
Microcephaly 17, Primary, Autosomal Recessive
Seizure, Primary microcephaly, Simplified gyral pattern, Delayed speech and language development,... OMIM:617090
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, EEG abnormality, Stereotypical hand wringing, Focal-onset seizure, Inability to walk, Con... OMIM:618760
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... ORPHA:101039
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum, Glioblastoma multiforme OMIM:619101
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Agitation, Impul... OMIM:309548
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Seizure, Abnormality of neuronal migration, Microcephaly ORPHA:1980
Cln5 Disease
Cerebral cortical atrophy, Inability to walk, Focal-onset seizure, Truncal ataxia, Unsteady gait,... ORPHA:228360
Lissencephaly Due To Tuba1A Mutation
Perisylvian polymicrogyria, Focal-onset seizure, Agyria, Dysgenesis of the basal ganglia, Lissenc... ORPHA:171680
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Ataxia, Absent speech, Microcephaly, Dysplastic corpus callosum OMIM:618276
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal periventricular white matter morphology, Cerebral cortical atrophy, Seizure, Shyness, Ab... ORPHA:280763
Fraxe Intellectual Disability
Hyperactivity, Delayed speech and language development, Recurrent hand flapping, Agitation, Compu... ORPHA:100973
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Delayed speech and language development, Attention deficit hyperactivity disorder, Seizure, Periv... OMIM:620065
Childhood Disintegrative Disorder
Social and occupational deterioration, Seizure, Impaired social interactions, Motor deterioration... ORPHA:168782
Pontocerebellar Hypoplasia, Type 14
Myoclonic seizure, Simplified gyral pattern, Focal-onset seizure, Absent speech, Bilateral tonic-... OMIM:619301
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Seizure, Absent speech, Depressed nasal bridge, Microcephaly, Bruxism OMIM:300434
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Primary microcephaly, Delayed speech and language development, Thin corpus ... OMIM:615771
Pontocerebellar Hypoplasia, Type 15
Myoclonic seizure, Simplified gyral pattern, Focal-onset seizure, Bilateral tonic-clonic seizure,... OMIM:619302
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Periventricular heterotopia, Seizure, Simplified gyral pattern, Absent speech, Pa... OMIM:616171
Familial Infantile Myoclonic Epilepsy
Limb myoclonus, Seizure, Focal-onset seizure, Delayed speech and language development, Interictal... ORPHA:352582
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment, Seizure, Delayed speech and language development, ... OMIM:617008
Bilateral Generalized Polymicrogyria
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... ORPHA:208447
Kufor-Rakeb Syndrome
Seizure, Hyposmia, Akinesia, Myoclonus, Gait disturbance, Dementia, Ataxia, Anosmia, Dysphagia, D... OMIM:606693
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Seizure, EEG abnormality, Delayed speech and language development, Lissencephaly, Microcephaly, D... OMIM:614833
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lateral ventricle dilatation, Inability to walk, Cerebellar gliosis, Polymicrogyria, EEG with foc... ORPHA:79243
Superficial Siderosis
Cognitive impairment, Seizure, Dysdiadochokinesis, Paresthesia, Progressive gait ataxia, Limb ata... ORPHA:247245
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Chorea, Inability to ... OMIM:618917
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Seizure, Delayed speech and language development, Hypsarrhythmia, Perive... OMIM:617201
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Seizure, Simplified gyral pattern, Interictal epileptiform activity, Absent speech, Depressed nas... OMIM:620001
Pitt-Hopkins-Like Syndrome 1
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Hyperactivity, EEG ab... OMIM:610042
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Paresthesia, Hyposmia, Impaired tactile sensation, Impaired p... OMIM:243000
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Abnormality of neuronal migration, Wide nasal bridge, Primary microcephaly, 4-layered ... ORPHA:89844
Lissencephaly 5
Leukoencephalopathy, Gray matter heterotopia, Seizure, Porencephalic cyst, Abnormal cerebral whit... OMIM:615191
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Seizure, Simplified gyral pattern, Lissencephaly, Microlissencephaly... OMIM:616212
Band Heterotopia
Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Subcortical band heterotopia, Age... OMIM:600348
Combined Oxidative Phosphorylation Deficiency 54
Generalized-onset seizure, Seizure, Periventricular nodular heterotopia, Hypoesthesia, Secondary ... OMIM:619737
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Seizure, Wide nasal bridge, Delayed speech and language development, Recurrent han... OMIM:613192
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Seizure, Wide nasal bridge, Delayed speech and language development, Prominent nas... ORPHA:352490
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Seizure, Abnormal cerebral white matter morphology, Type II lissencephal... ORPHA:352682
Pontocerebellar Hypoplasia Type 2
Seizure, Abnormal cortical gyration, Impaired oropharyngeal swallow response, Generalized myoclon... ORPHA:2524
Congenital Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Seizure, Wide nasal bridge, EEG with burst suppression, Cerebral hypoplasia, N... ORPHA:168486
Christianson Syndrome
Gait ataxia, Generalized-onset seizure, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corp... ORPHA:85278
Juvenile Neuronal Ceroid Lipofuscinosis
Cognitive impairment, Seizure, Motor deterioration, Myoclonic spasms, Interictal EEG abnormality,... ORPHA:79264
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Impaired social interactions, Delayed speech and language development,... ORPHA:544254
Atypical Rett Syndrome
Gait ataxia, Limb myoclonus, Seizure, EEG abnormality, Stereotypical hand wringing, Impaired soci... ORPHA:3095
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Seizure, Abnormal repetitive mannerisms, Absent speech, Short nose, Hy... ORPHA:85277
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Spastic gait OMIM:613162
Brain Small Vessel Disease 2
Subcortical heterotopia, Focal-onset seizure, Porencephalic cyst, Bilateral tonic-clonic seizure,... OMIM:614483
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Seizure, EEG abnormality, Inability to walk, Delayed speech and language developme... OMIM:618718
Microcephaly 26, Primary, Autosomal Dominant
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Wide nasal bridge, Stereo... OMIM:619179
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Seizure, Delayed speech and language development, Depressed nasal br... OMIM:618974
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Myoclonic seizure, Seizure, Lateral ventricle dilatation, Wide nasal bridge, Inability to walk, T... OMIM:615716
Lamb-Shaffer Syndrome
Hyperactivity, Seizure, Delayed speech and language development, Abnormal social behavior, Abnorm... ORPHA:530983
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Seizure, Delayed speech and language development, Recurrent hand flapp... OMIM:618859
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Seizure, Delayed speech and language development, Gait disturb... OMIM:300957
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
5Q14.3 Microdeletion Syndrome
Seizure, Delayed speech and language development, Abnormal repetitive mannerisms, Short nose, Ant... ORPHA:228384
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Periventricular heterotopia, Seizure, Periventricular leukomalacia, Cortic... ORPHA:255138
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Cognitive impairment, Seizure, Inability to walk, Focal-onset seizure, Lissenceph... ORPHA:258
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, EEG abnormality, Primary microcephaly, Inability to walk, Severe recep... ORPHA:457351
Pontocerebellar Hypoplasia, Type 11
Seizure, Inability to walk, Delayed speech and language development, Limb ataxia, Ataxia, Attenti... OMIM:617695
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Gray matter heterotopia, Seizure, Delayed speech and language development, Thin corpus... OMIM:619694
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Seizure, Hyposmia OMIM:610628
Apnea, Obstructive Sleep
Anosmia, Focal impaired awareness seizure OMIM:107650
Intellectual Developmental Disorder With Autism And Macrocephaly
Wide nose, Pronoun reversal, Pica, Echolalia, Wide nasal bridge, Seizure, Delayed speech and lang... OMIM:615032
Young-Onset Parkinson Disease
Cognitive impairment, Gait imbalance, Hyposmia, Impaired social interactions, Frontal lobe dement... ORPHA:2828
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Cerebral cortical atrophy, Shuffling gait, Hyposmia, Akinesia, Dementia, Agitation, ... ORPHA:411602
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Spinocerebellar Ataxia, Autosomal Recessive 31
Seizure, Delayed speech and language development, Choreoathetosis, Absent speech, Ataxia, Posteri... OMIM:619422
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Myoclonic seizure, Thin corpus callosum, Abnormal repetitive mannerisms, Pachygyria, Dysphagia, I... ORPHA:572013
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Positive Romberg sign, Anosmia, Steppage gait, Distal ... OMIM:601152
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Tip-toe gait, Abnormal cerebral white matter morphology, Microcephaly, P... ORPHA:370980
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Seizure, Abnormality of neuronal migration, Thin corpus callosum, Hypopl... OMIM:300049
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Seizure, Hyposmia OMIM:244200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Abnormal periventricular white matter morphology, Seizure, Delayed speech and language developmen... OMIM:616900
Lopes-Maciel-Rodan Syndrome
Seizure, Absent speech, Agitation, Focal impaired awareness seizure, Caudate atrophy, Cerebral at... OMIM:617435
Tetrasomy 18P
Seizure, Abnormality of neuronal migration, Gait disturbance, Short nose, Microcephaly ORPHA:3307
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia OMIM:614879
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Seizure, Lateral ventricle dilatation, Impaired social interactions, Simplified g... ORPHA:300570
Rett Syndrome, Congenital Variant
Chorea, Seizure, EEG abnormality, Impaired social interactions, Simplified gyral pattern, Absent ... OMIM:613454
Autosomal Recessive Cutis Laxa Type 2A
Generalized-onset seizure, Seizure, Inability to walk, Primary microcephaly, Prominent nasolabial... ORPHA:357058
Intellectual Developmental Disorder, Autosomal Recessive 38
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Echolalia,... OMIM:615516
2Q23.1 Microdeletion Syndrome
Hyperactivity, Seizure, Delayed speech and language development, Ataxia, Abnormal repetitive mann... ORPHA:228402
Developmental And Epileptic Encephalopathy 110
Chorea, Generalized non-motor (absence) seizure, Absent speech, Focal impaired awareness hemiclon... OMIM:620149
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Increased theta frequency activity in EEG, EEG with focal spikes, Focal hyp... ORPHA:98784
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Leukoencephalopathy, Myoclonic seizure, Gray matter heterotopia, Cerebral cortical atrophy, Bilat... OMIM:620024
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Delayed speech and language development, Gait disturbance, Abnormal repetitive mannerism... ORPHA:457240
Alg11-Cdg
Gray matter heterotopia, Seizure, Impaired social interactions, EEG with burst suppression, Ataxi... ORPHA:280071
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Depressed nasal bridge, Anosmia, Microcephaly, Short nasal septum OMIM:302950
Mucolipidosis Iv
Cerebral dysmyelination, Absent speech, Progressive neurologic deterioration, Microcephaly, Dyspl... OMIM:252650
Developmental And Epileptic Encephalopathy 87
Prominent nose, Seizure, Hypsarrhythmia, Recurrent hand flapping, Cerebral atrophy, Infantile spa... OMIM:618916
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, Seizure, EEG abnormality, Recurrent hand flapping, Myoclonus, Cess... ORPHA:98794
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal periventricular white matter morphology, Seizure, Absent speech, Abnormal repetitive man... ORPHA:500159
Intellectual Developmental Disorder, X-Linked 98
Atonic seizure, Bulimia, Short nose, Secondary microcephaly, Bilateral tonic-clonic seizure, Infa... OMIM:300912
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Myoclonus, Generalized non-convulsive status epilepticus without co... OMIM:203700
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum, Anosmia, Hyposmia, Choanal atresia OMIM:147950
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Seizure, EEG abnormality, Delayed speech and language development, Prominent nasolabial fold, Rep... ORPHA:391372
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Lewy bodies, Substantia nigra gliosis, Dementia OMIM:607060
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Seizure, Cleft ala nasi, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:164180
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Seizure, Echolalia OMIM:620021
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cognitive impairment, Seizure, Echolalia, Abnormal repetitive mannerisms, Ataxia, Agitation, Micr... ORPHA:927
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Cerebral cortical atrophy, Gait imbalance, Seizu... ORPHA:488627
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, Gait ataxia, Echolalia, Inability to walk, Delayed speech and language develop... OMIM:619580
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Hyposmia OMIM:613724
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Chorea, Hyperactivity, Delayed speech and language development, Recurrent hand... OMIM:617600
Supranuclear Palsy, Progressive, 1
Granulovacuolar degeneration, Neuronal loss in basal ganglia, Frontolimbic dementia, Falls, Akine... OMIM:601104
Septo-Optic Dysplasia Spectrum
Seizure, Septo-optic dysplasia, Polydipsia, Anosmia, Absent septum pellucidum, Agenesis of corpus... ORPHA:3157
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia, Polyphagia OMIM:617885
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Echolalia, Seizure, Severe receptive language delay, Abnormal repetitive mannerism... ORPHA:3306
3-Hydroxyisobutyric Aciduria
Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly OMIM:236795
Glutathionuria
Dysdiadochokinesis, Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Hydrolethalus
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Abnormality of the sense of smell, Agenes... ORPHA:2189
Gorlin Syndrome
Abnormality of the sense of smell, Cerebral calcification, Wide nasal bridge ORPHA:377
Optic Atrophy 11
Leukoencephalopathy, Hyperactivity, Gait apraxia, Seizure, EEG with focal sharp waves, Absent spe... OMIM:617302
Neonatal Adrenoleukodystrophy
Seizure, Abnormality of neuronal migration, Wide nasal bridge, EEG abnormality, Anteverted nares ORPHA:44
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Head-banging, Seizure, Depressed nasal bridge, Partial agenesis of the corp... OMIM:619103
Radio-Tartaglia Syndrome
Gray matter heterotopia, Gait imbalance, Seizure, Wide nasal bridge, Delayed speech and language ... OMIM:619312
Intellectual Developmental Disorder, Autosomal Dominant 51
Febrile seizure (within the age range of 3 months to 6 years), Wide nasal bridge, Delayed speech ... OMIM:617788
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Lateral ventricle dilatation, Generalized myoclonic seizure, Focal hyp... ORPHA:77299
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia, Hypoesthesia, Impaired proprioception, Pain insensitivity, Impaired temperature sensati... OMIM:616488
Bardet-Biedl Syndrome 17
Anosmia, Polydipsia, Cognitive impairment, Hyposmia OMIM:615994
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lewy bodies, Frontotemporal dementia, Cerebral cortical atrophy, Lateral ventricle dilatation, Re... OMIM:607485
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Chorea, Seizure, Wide nasal bridge, Generalized non-motor (absence) seizure, Inability to walk, R... OMIM:300260
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Bifid nose, Hyposmia OMIM:614838
Rett Syndrome
Seizure, EEG abnormality, Stereotypical hand wringing, Primary microcephaly, Inability to walk, G... ORPHA:778
Bilateral Perisylvian Polymicrogyria
EEG with central focal spikes, Focal sensory seizure, Abnormality of neuronal migration, Perisylv... ORPHA:98889
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Wide nasal bridge, Primary microcephaly, Myoclonic spasms, Hypsarrhy... ORPHA:447997
Cockayne Syndrome Type 3
Abnormality of peripheral nerve conduction, Cognitive impairment, Seizure, Subcortical white matt... ORPHA:90324
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Gray matter heterotopia, Microcephaly, Pachygyria, Agenesis of c... ORPHA:2512
Fragile X Syndrome
Recurrent hand flapping, Seizure, Periventricular heterotopia, Hyperactivity OMIM:300624
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Pica, Seizure, EEG abnormality, Delayed speech and language development, Recurrent hand flapping,... OMIM:618480
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, Abnormality of neuronal migration, EEG abnormality, Delayed speech and... ORPHA:261236
Refsum Disease, Classic
Somatic sensory dysfunction, Anosmia, Ataxia OMIM:266500
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Prominent nose, Delayed speech and language development, Abnormal repetitive manne... ORPHA:391307
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum, Seizure, Delayed speech and l... ORPHA:531151
Foxg1 Syndrome Due To 14Q12 Microdeletion
Seizure, Absent speech, Short nose, Abnormal repetitive mannerisms, Depressed nasal bridge, Micro... ORPHA:261144
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Seizure, EEG abnormality, Cessation of head growth, Secondary microcephaly, Bilat... ORPHA:98795
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Pica, Cerebral cortical atrophy, Hyperactivity, Tics, Absent speech, Short nose, Broad columella,... OMIM:617865
3P25.3 Microdeletion Syndrome
Prominent nose, Delayed speech and language development, Generalized myoclonic seizure, Absent sp... ORPHA:435638
4Q21 Microdeletion Syndrome
Seizure, Delayed speech and language development, Abnormal repetitive mannerisms, Depressed nasal... ORPHA:238750
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure, Microcephaly, Cerebral atrophy OMIM:300337
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Seizure, Spastic gait, Shuffling gait, Delayed speech and language development, Choreoathetosis, ... OMIM:300055
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Seizure, Wide nasal bridge, EEG abnormality, Delayed s... ORPHA:819
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Optic Atrophy-Intellectual Disability Syndrome
Short nasal bridge, Seizure, Repetitive compulsive behavior, Absent speech, Compulsive behaviors,... ORPHA:401777
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell, Microcephaly ORPHA:3201
Macrocephaly-Developmental Delay Syndrome
Seizure, Wide nasal bridge, Delayed speech and language development, Abnormal repetitive manneris... ORPHA:397612
Joubert Syndrome 30
Delayed speech and language development, Gray matter heterotopia, Seizure OMIM:617622
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dysdiadochokinesis, Truncal ataxia, Gait disturbance, Abnormal globus pallidus morphology, Abnorm... ORPHA:309854
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Rett Syndrome
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Seizure, EEG abnormality, Stereotypical han... OMIM:312750
Holoprosencephaly
Absent nares, Chorea, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the corpus cal... ORPHA:2162
22Q11.2 Duplication Syndrome
Wide nose, Depressed nasal ridge, Seizure, Delayed speech and language development, Abnormal repe... ORPHA:1727
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cognitive impairment, Periventricular heterotopia, Hyperintensity of cerebral white matter on MRI... OMIM:618476
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Seizure, Shyness, Impaired social interactions, Delayed speech and language develo... ORPHA:449291
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Seizure, Gait distu... ORPHA:475
Angelman Syndrome
Cerebral cortical atrophy, EEG abnormality, Inability to walk, Atonic seizure, Dysphagia, Cerebra... ORPHA:72
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Seizure, EEG abnormality, Recurrent hand flapping, Cessation of head growth, Atax... ORPHA:411511
Dworschak-Punetha Neurodevelopmental Syndrome
Seizure, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Agenesis of corpus cal... OMIM:619955
Edinburgh Malformation Syndrome
Seizure, Abnormality of neuronal migration, Short nose, Anteverted nares, Choanal atresia ORPHA:1895
Leber Congenital Amaurosis
Seizure, Abnormality of neuronal migration ORPHA:65
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Seizure, Macrogyria, Agenesis of c... ORPHA:35107
Kallmann Syndrome
Seizure, Hyposmia, Gait disturbance, Ataxia, Anosmia ORPHA:478
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Seizure, Absent brainstem auditory responses, Myoclonus, Cerebral dysmyelination, Ataxia, Decreas... OMIM:609136
Aural Atresia, Congenital
Hyposmia OMIM:607842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormal periventricular white matter morphology, Abnormality of neuronal migration, Pachygyria OMIM:608840
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Developmental And Speech Delay Due To Sox5 Deficiency
Delayed speech and language development, Attention deficit hyperactivity disorder, Seizure, Abnor... ORPHA:313892
Musk, Inability To Smell
Anosmia OMIM:254150
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Abnormality of neuronal migration, Wide nasal bridge, Seizure, Microce... ORPHA:2518
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Microcephaly, Choanal atresia ORPHA:2316
Refsum Disease
Anosmia, Ataxia ORPHA:773
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Cognitive impairment, Abnormality of neuronal migration, Seizure ORPHA:93274
Poretti-Boltshauser Syndrome
Delayed speech and language development, Gray matter heterotopia, Abnormal periventricular white ... OMIM:615960
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Ataxia, Anosmia, Hyposmia OMIM:308700
Bainbridge-Ropers Syndrome
Underdeveloped nasal alae, Seizure, Inability to walk, Recurrent hand flapping, Bulbous nose, Abs... ORPHA:352577
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Focal-onset seizure, Delayed speech and language development, Interictal... OMIM:618918
Solitary Median Maxillary Central Incisor
Choanal atresia, Midnasal stenosis, Anosmia, Microcephaly, Pyriform aperture stenosis, Abnormal n... OMIM:147250
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Head-banging, Seizure, Wide nasal bridge, Delayed speech and language development, Status epilept... OMIM:618569
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure, Stereotypical hand wringing, Delayed speech and... OMIM:612337
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Seizure, Macrogyria, Lissencephaly... ORPHA:899
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Seizure, Lateral ventricle dilatation, Delayed speech and language development, Absent speech, Sh... ORPHA:457279
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Seizure, Simplified gyral pattern, Lissencephaly, Bulbous nose, Colpocep... OMIM:615219
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Generalized tonic seizure, Absent speech, Ataxia, Depressed nasal bridge, Microceph... OMIM:616393
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Absent speech, Depressed nasal bridge, Anteverted nares, Cerebral atroph... OMIM:618797
Galloway-Mowat Syndrome
Cognitive impairment, Abnormality of neuronal migration, EEG abnormality, Seizure, Microcephaly, ... ORPHA:2065
Vici Syndrome
Gray matter heterotopia, Cerebral cortical atrophy, Seizure, EEG abnormality, Depressed nasal tip... ORPHA:1493
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Microcephaly ORPHA:2204
6Q Terminal Deletion Syndrome
Gait ataxia, Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migrat... ORPHA:75857
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Impaired social interactions, Delayed speech and language development, T... OMIM:619775
White-Sutton Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Cerebral cortical a... ORPHA:468678
Johnson Neuroectodermal Syndrome
Choanal stenosis, Anosmia, Microcephaly OMIM:147770
Intellectual Developmental Disorder, Autosomal Dominant 64
Seizure, Delayed speech and language development, Periventricular nodular heterotopia, Depressed ... OMIM:619188
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Ataxia OMIM:308750
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Seizure, Recurrent hand flapping, Gait disturbance, Absent speech, Agitation, Microcephaly, Bruxism OMIM:617903
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Seizure, Abnormality of neuronal migration, Ataxia, An... ORPHA:2318
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Meningioma
Cognitive impairment, Seizure, Focal-onset seizure, Hemifacial spasm, Ataxia, Difficulty walking,... ORPHA:2495
Amoebiasis Due To Free-Living Amoebae
Encephalomalacia, Restlessness, Cerebral edema, Seizure, Hyposmia, Ataxia, Abnormal cerebral whit... ORPHA:68
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Abnormality of the sense of smell, Aplasia/Hypoplasia of the corpus ca... ORPHA:284160
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Proximal 16P11.2 Microdeletion Syndrome
Seizure, Impaired social interactions, Delayed speech and language development, Moderate receptiv... ORPHA:261197
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Anosmia, Short nose ORPHA:1295
Man1B1-Cdg
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Seizure, Polyphagia, B... ORPHA:397941
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Periventricular cysts, Seizure, Hyperintensity of cerebral white matter on MRI, Lateral ventricle... ORPHA:544488
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Delayed spee... ORPHA:513456
Alazami Syndrome
Wide nose, Seizure, Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating ... ORPHA:319671
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Even-Plus Syndrome
Depressed nasal ridge, Short nose, Bifid nasal tip, Dysplastic corpus callosum, Agenesis of corpu... OMIM:616854
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Seizure, Type II lissencephaly, Microcephaly, Diffuse white matter abnor... ORPHA:370959
Congenital Hypothyroidism
Paresthesia, Anosmia, Depressed nasal ridge ORPHA:442
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Chorea, EEG with series of focal spikes, Hemiballismus, EEG abnormality, Prominent nasal tip, Rep... ORPHA:522077
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Seizure, Primary microcephaly, Absent speech, Compulsive behaviors, Short nose, Abno... ORPHA:476126
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
48,Xxyy Syndrome
Ataxia, Attention deficit hyperactivity disorder, Seizure, Abnormal repetitive mannerisms ORPHA:10
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Cerebral cortical atrophy, General... ORPHA:496641
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Aplasia/Hypoplasia of the corpus callosum, Seizure, Lissencephaly, Short... OMIM:617822
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Lateral ventricle dilatation, Thin corpus callosum, Short nose, Depr... OMIM:614105
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Depressed nasal ridge OMIM:601016
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Depressed nasal bridge, Impulsivity, Focal impaired awareness seizur... OMIM:618929
Wilson Disease
Seizure, Hyposmia, Hypoesthesia, Dementia, Decreased nerve conduction velocity, Dysphagia OMIM:277900
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Midline brain calcifications, Seizure, Wide nasal bridge, Agyria, Lissen... OMIM:247200
Megalocornea-Intellectual Disability Syndrome
Seizure, Wide nasal bridge, EEG abnormality, Abnormal repetitive mannerisms, Ataxia, Microcephaly ORPHA:2479
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia, Microcephaly, Seizure ORPHA:251066
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Neurocutaneous Melanocytosis
Seizure, Abnormality of neuronal migration, EEG abnormality ORPHA:2481
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the frontal lobes, Abnormal periventricular white matter morphology, Periventricula... ORPHA:468631
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cognitive impairment, Abnormality of neuronal migration, Seizure ORPHA:2063
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Microcephaly ORPHA:2772
Chiari Malformation Type Ii
Ataxia, Gray matter heterotopia, Agenesis of corpus callosum, Dysphagia OMIM:207950
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cerebral cortical atrophy, Abnormality of neuronal migration, Seizure, Delayed speech and languag... ORPHA:464311
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
2Q37 Microdeletion Syndrome
Underdeveloped nasal alae, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Broad c... ORPHA:1001
Thanatophoric Dysplasia
Gray matter heterotopia, Seizure, Depressed nasal bridge ORPHA:2655
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Prominent nose, Head-banging, Lateral ventricle dilatation, Impaired s... ORPHA:177907
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Acalvaria
Abnormality of neuronal migration ORPHA:945
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Seizure, Absent speech, Hypoplasia of the corpus callosum, Dysplastic corpus... OMIM:614924
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Bilateral choanal atresia/stenosis, Wide nasal bridge, Ataxia, Microceph... ORPHA:314679
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Coffin-Lowry Syndrome
Wide nose, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Abnormality of n... ORPHA:192
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Delayed speech and language development, Microcephaly, Difficulty walking, Hypoplasia o... OMIM:618653
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis OMIM:244400
Pyruvate Carboxylase Deficiency
Periventricular cysts, Basal ganglia gliosis, Generalized clonic seizure, Seizure, Hyperintensity... ORPHA:3008
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Seizure, Cerebral calcification, Pachygyria, Abnormal basal ga... ORPHA:157
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Thin corpus callosum, Periventricular leukomalacia, Ataxia, Short no... OMIM:619833
Wiedemann-Steiner Syndrome
Hyperactivity, Seizure, Wide nasal bridge, Delayed speech and language development, Psychomotor d... ORPHA:319182
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Seizure, Agenesis of corpus callosum, Basal ganglia cysts, Mic... OMIM:608836
Oculoskeletodental Syndrome
Wide nasal bridge, Broad columella, Depressed nasal bridge, Focal white matter lesions, Dysplasti... ORPHA:557003
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Cerebral calcification, Microceph... OMIM:617397
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Gray matter heterotopia, Seizure, Wide nasal bridge, Bifid nos... OMIM:603671
Okur-Chung Neurodevelopmental Syndrome
Wide nasal bridge, Simplified gyral pattern, Delayed speech and language development, Recurrent h... OMIM:617062
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased amplitude of sensory action potentials, Bilateral tonic-cl... OMIM:618733
Nmda Receptor Encephalitis
Chorea, Generalized-onset seizure, No social interaction, Seizure, Focal-onset seizure, Myoclonus... ORPHA:217253
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the corpus callosum, Seizure, Abnormality of neuronal migration, Gait distu... ORPHA:1454
Kapur-Toriello Syndrome
Bulbous nose, Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Isolated Follicle Stimulating Hormone Deficiency
Anosmia ORPHA:52901
Choreoacanthocytosis
Hair-pulling, Cerebral cortical atrophy, Abnormal putamen morphology, Lateral ventricle dilatatio... ORPHA:2388
Moebius Syndrome
Abnormality of the sense of smell, Dysphagia ORPHA:570
7Q11.23 Microduplication Syndrome
Hyperactivity, Seizure, Impaired social interactions, Simplified gyral pattern, Delayed speech an... ORPHA:96121
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Subcortical heterotopia, Agyria, Lissencephaly, Type II lissencephaly, P... OMIM:614643
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Seizure, Delayed speech and language development, Anteverted nares, ... ORPHA:261250
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Anteverted nares, Dysplastic corpus callosum, Seizure, Wide nasal bridge OMIM:618810
Orofaciodigital Syndrome Type 6
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Seizure, Gait distu... ORPHA:2754
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Seizure, Wide nasal bridge, Depressed nasal bridge, Polymicrogyria OMIM:614887
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Seizure, Delayed speech and language development, Pear-sh... OMIM:610443
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia, Seizure, Inability to walk, Depressed nasal bridge, Gliosis, Dysphagia ORPHA:26791
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Seizure, Cerebral calcification, Pachygyria, Intracerebral per... ORPHA:228308
Periventricular Nodular Heterotopia
Focal-onset seizure, Periventricular heterotopia ORPHA:98892
Peroxisome Biogenesis Disorder 1A (Zellweger)
Gray matter heterotopia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Se... OMIM:214100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Seizure, Inability to walk, Absent speech, Short nose, Abnormal repeti... ORPHA:508533
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Underdeveloped nasal alae, Gray matter heterotopia, Seizure, Wide nasal bridge, Delayed speech an... ORPHA:453499
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Convex nasal ridge, Periventricular heterotopia, Prominent nasal tip, Depressed nasal bridge, Att... OMIM:618870
Orofaciodigital Syndrome Xvi
Ataxia, Gray matter heterotopia, Inability to walk, Depressed nasal bridge OMIM:617563
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Kleefstra Syndrome
Cerebral cortical atrophy, Seizure, Delayed speech and language development, Abnormal repetitive ... ORPHA:261494
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:529965
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum, Seizure OMIM:619423
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Prominent nasal bridge, Microcephaly OMIM:604273
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia, EEG abnormality, Proboscis, Bilateral tonic... OMIM:619895
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Wide nasal bridge, Depressed nasal... ORPHA:2211
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Depressed nasal ridge, Macrogyria,... ORPHA:2671
Bohring-Opitz Syndrome
Gray matter heterotopia, Seizure, Wide nasal bridge, Depressed nasal bridge, Microcephaly, Anteve... OMIM:605039
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Seizure, Wide nasal bridge, Delayed speech and language development,... ORPHA:48652
Transketolase Deficiency
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech, Compulsiv... ORPHA:488618
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Occipital Horn Syndrome
Abnormality of the sense of smell, Cerebral calcification, Dysphagia ORPHA:198
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Wide nasal bridge, EEG abnormality, Focal-onset seizure, Repetitive compulsive behavior, Clonic s... OMIM:619475
Dyrk1A-Related Intellectual Disability Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Cerebral cortical a... ORPHA:464306
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Single naris, Anosmia, Hyposmia ORPHA:2250
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Seizure, Depressed nasal bridge ORPHA:1860
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Delayed speech and language development, Low hanging columella, Dysplastic corpus callosum, Long ... ORPHA:363444
Dpagt1-Cdg
Epileptic spasm, Cerebral cortical atrophy, Head-banging, Seizure, Focal motor seizure, Akinesia,... ORPHA:86309
Van Maldergem Syndrome 1
Gray matter heterotopia, Wide nasal bridge, Simplified gyral pattern, Periventricular nodular het... OMIM:601390
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Astrocytoma, Ependymoma, Pleomorphic xanthoastrocytoma, Oligodendrogliom... OMIM:276300
3C Syndrome
Depressed nasal bridge, Abnormality of neuronal migration, Wide nasal bridge, Short nose ORPHA:7
Nijmegen Breakage Syndrome
Convex nasal ridge, Prominent nose, Abnormality of neuronal migration, Depressed nasal bridge, At... ORPHA:647
Tuberous Sclerosis Complex
Hyperactivity, Seizure, Focal-onset seizure, Repetitive compulsive behavior, Abnormal social beha... ORPHA:805
Charge Syndrome
Compulsive behaviors, Depressed nasal bridge, Anosmia, Microcephaly, Attention deficit hyperactiv... ORPHA:138
Aicardi Syndrome
Gray matter heterotopia, Cavum septum pellucidum, Lateral ventricle dilatation, Seizure, Partial ... OMIM:304050
Dilated Cardiomyopathy With Ataxia
Bilateral basal ganglia lesions, Repetitive compulsive behavior, Seizure, Ataxia ORPHA:66634
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Aplasia of the nasal bone, Colpocephaly, Short nose, Secondary microceph... OMIM:618820
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Prominent nose, Seizure, Delayed speech and language development, Thick corpus callosum, Ataxia, ... OMIM:300967
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Underdeveloped nasal alae, Gray matter heterotopia, Typical absence seizure, Seizure, Wide nasal ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Underdeveloped nasal alae, Gray matter heterotopia, Typical absence seizure, Seizure, Wide nasal ... ORPHA:352665
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Prominent nose, Seizure, Partial agenesis of the corpus callosum, Attent... OMIM:305450
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Cystinosis
Polydipsia, Gait disturbance, Abnormal repetitive mannerisms ORPHA:213
Mucopolysaccharidosis Type 2
Wide nose, Hyperactivity, Cognitive impairment, Seizure, Wide nasal bridge, Abnormal repetitive m... ORPHA:580
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Underdeveloped nasal alae, Gray matter heterotopia, Depressed nasal bridge, Anteverted nares OMIM:608624
Vici Syndrome
Wide nose, Gray matter heterotopia, Seizure, Depressed nasal bridge, Microcephaly, Dysphagia, Sch... OMIM:242840
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Seizure OMIM:219730
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Convex nasal ridge, Social and occupational deterioration, Seizure, EEG abnormalit... ORPHA:353281
Lacrimoauriculodentodigital Syndrome
Dysphagia, Anosmia, Seizure, Choanal atresia ORPHA:2363
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypoplasia of the frontal lobes, Gray matter heterotopia, Prominent nose, Colpocephaly, Abnormal ... OMIM:210710
Van Maldergem Syndrome 2
Gray matter heterotopia, Wide nasal bridge, Periventricular nodular heterotopia, Depressed nasal ... OMIM:615546
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Prominent nose, Seizure, Shyness, Delayed speech and language development, Pseudobulbar paralysis... ORPHA:466791
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Orofaciodigital Syndrome I
Underdeveloped nasal alae, Gray matter heterotopia, Seizure, Wide nasal bridge, Abnormal cortical... OMIM:311200
1P36 Deletion Syndrome
Cerebral cortical atrophy, Depressed nasal ridge, Wide nasal bridge, EEG abnormality, Seizure, De... ORPHA:1606
Witteveen-Kolk Syndrome
Underdeveloped nasal alae, Wide nose, Overhanging nasal tip, Hyperactivity, Bilateral polymicrogy... OMIM:613406
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Aplasia of the nose, Choanal atresia OMIM:603457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Seizure, Anencephaly, Abnormal cerebral white matter morphology, Type II... OMIM:615287
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Convex nasal ridge, Wide nasal bridge, EEG abnormality, Lateral ventricle dilatation, Primary mic... ORPHA:261537
Mowat-Wilson Syndrome
Wide nasal bridge, Inability to walk, Focal-onset seizure, Prominent nasal tip, Broad columella, ... ORPHA:2152
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Ischemic stroke, Wide nasal bridge, Lateral ventricle dilatation, Simp... ORPHA:500150
Zttk Syndrome
Seizure, Wide nasal bridge, Periventricular leukomalacia, Status epilepticus, Short nose, Abnorma... OMIM:617140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Convex nasal ridge, Social and occupational deterioration, Seizure, EEG abnormalit... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Convex nasal ridge, Social and occupational deterioration, Seizure, EEG abnormalit... ORPHA:353277
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Convex nasal ridge, Wide nasal bridge, EEG abnormality, Lateral ventricle dilatation, Primary mic... ORPHA:261552
White-Kernohan Syndrome
Underdeveloped nasal alae, Short nose, Depressed nasal bridge, Attention deficit hyperactivity di... OMIM:619426
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Lenz-Majewski Hyperostotic Dwarfism
Choanal stenosis, Cerebral cortical atrophy, Microcephaly, Dysplastic corpus callosum, Agenesis o... OMIM:151050
Charge Syndrome
Arrhinencephaly, Anosmia, Microcephaly, Dysphagia, Choanal atresia OMIM:214800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Wide nasal bridge, Periventricular leukomalacia, Abnormal repetitive mannerisms, Microcephaly, Hy... ORPHA:508498
Smith-Lemli-Opitz Syndrome
Hypoplasia of the frontal lobes, Hyperactivity, Periventricular heterotopia, Wide nasal bridge, S... OMIM:270400
Oculocerebrorenal Syndrome Of Lowe
Seizure, EEG abnormality, Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit... ORPHA:534
Arima Syndrome
Gray matter heterotopia, Polydipsia, Ataxia OMIM:243910
Norrie Disease
Cerebral cortical atrophy, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Narrow nasal... ORPHA:649
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Abnormality of neuronal migration, Microcephaly ORPHA:3186
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration, Arrhinencephaly, Anencephaly, Bifid nose, Mi... OMIM:236680
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Simplified gyral pattern, Absent speech, Partial agenesis of the cor... OMIM:615948
Genitopatellar Syndrome
Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Thin corpus callosum, ... OMIM:606170
Fontaine Progeroid Syndrome
Gray matter heterotopia, Convex nasal ridge, Periventricular heterotopia, Short nose, Depressed n... OMIM:612289
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Open operculum, Partial agenesis of the corpus callosum, Microcephal... ORPHA:434179
Pagod Syndrome
Abnormality of neuronal migration, Microcephaly ORPHA:991
Proteus Syndrome
Gray matter heterotopia, Seizure, Depressed nasal bridge, Anteverted nares, Thick nasal alae ORPHA:744
Trichotillomania
Hair-pulling OMIM:613229

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 Cntnap2

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 Cntnap2.

No publications found that use IMPC mice or data for Cntnap2.

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MGI Allele Allele Type Produced
Cntnap2tm43287(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cntnap2em1(IMPC)H Indel Mice
Cntnap2em2(IMPC)H Indel Mice
Cntnap2em3H Deletion Mice

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