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Gene: Cntnap2 MGI:1914047

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased exploration in new environment Cntnap2em1(IMPC)H HOM   Early adult 6.06×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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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
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... OMIM:137580
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... OMIM:608636
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Astrocytosis, Inappropriate behavior,... OMIM:600795
Stxbp1-Related Encephalopathy
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... ORPHA:599373
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Microcephaly, Cortical dysplasia, Abnormality of neuronal migration, Seizure, Attention d... OMIM:618709
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Se... ORPHA:101029
Autism, Susceptibility To, 8
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... OMIM:607373
Autism
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... OMIM:209850
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Thin corpus callosum, Gray matter... OMIM:615411
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Schizencephaly, Impulsi... OMIM:604317
Focal Cortical Dysplasia, Type Ii
Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Astrocytosis, Focal imp... OMIM:607341
Lissencephaly 3
Agyria, Ataxia, Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Microcephaly... OMIM:611603
Schizophrenia 15
Hyperactivity OMIM:613950
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Motor seizure, EEG with changes in voltage, Infantile spasms, Hypsarrhythmia, Seizure, Gray matte... ORPHA:1084
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Microcephaly, Periventricular heterotopia, Hypsarrhythmia, Seizure, Hypoplasia of the corpus call... OMIM:608097
Huntington Disease
Caudate atrophy, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Abnormality of the sens... ORPHA:399
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Cerebral atrophy, Hypsarrhythmia, Astrocytosis, Dementia, Cerebral cortex with... ORPHA:204
Hemimegalencephaly
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, Focal cortical dy... ORPHA:99802
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Chorea, Microce... OMIM:619150
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Lissencephaly 1
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Abnormal cerebral white matter mo... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Generalized-onset seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyt... OMIM:618677
Microlissencephaly
Thick cerebral cortex, Subcortical heterotopia, Bilateral tonic-clonic seizure with generalized o... ORPHA:1083
Symmetrical Thalamic Calcifications
Cerebral calcification, Ataxia, Microcephaly, Abnormality of neuronal migration, EEG abnormality,... ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Focal-onset seizure, Cortical dysplasia, Perisylvian polymicrogyria... ORPHA:300573
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300425
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Seizure, Lissencephaly, Pachygyria, Agenesis of corpus callosum,... OMIM:300067
Nodular Neuronal Heterotopia
EEG abnormality, Seizure, Abnormality of neuronal migration ORPHA:2149
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Prominent nasal bridge, Prominent nose, Reduced cerebral ... OMIM:620317
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Abnormal social behavior, Seizure ORPHA:436151
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Sei... OMIM:604213
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Seiz... ORPHA:500166
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa... ORPHA:561854
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Anteverted nares, Absent septum pellucidum, Aggressive behavior, Prominent nose, Inability to wal... OMIM:618492
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Microcephaly, Clonic seizure, Cortical dysplasia, Self-injurious behavior, Seizure, Secondary mic... OMIM:615282
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Gait ataxia, Choreoathetosis, Basal ganglia cysts, Astrocytosis, Gait disturbance, Myoclo... ORPHA:225154
Isolated Focal Cortical Dysplasia
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Thick cerebral cortex, Bil... ORPHA:65683
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, EEG abnormality, Seizure, Impaired social interaction... OMIM:617820
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Attention deficit hyperactivity disorder, Difficulty walking, Ment... OMIM:619191
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Microcephaly, Unsteady gait, Seizure, Secondary microceph... OMIM:614063
Periventricular Nodular Heterotopia 6
Infantile spasms, Focal motor seizure, Hypsarrhythmia, Seizure, Periventricular nodular heterotopia OMIM:615544
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Microcephaly, Aggressive behavior, Seizure, Bruxism OMIM:615493
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Focal cortical dysplasia, Bilateral tonic-clonic seizure, Simple febr... ORPHA:98820
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Dysplastic corpus callosum, Seizure, Primary microcephaly, Overfriendliness OMIM:618010
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic... OMIM:617171
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Generalized-onset seizure, Unilateral polymicrogyria, Infantile spasms, Microcephaly, Partial age... OMIM:610031
Landau-Kleffner Syndrome
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... ORPHA:98818
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Chorea, Diffuse spongiform leukoencephalopathy, EEG with persist... ORPHA:282166
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Periventricular nodular heterotopia, Seizure, Microcephaly OMIM:618572
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Epileptic spasm, Microcephaly, Inability to walk, Chorea, Cerebral atrophy, Myoclonic seizure, Se... OMIM:614254
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... ORPHA:101039
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Seizure, Status epilepticus, Abnorma... OMIM:239500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Microcephaly, Simplified gyral pattern, Sei... OMIM:619470
Periventricular Nodular Heterotopia 8
Seizure, Periventricular nodular heterotopia, Reduced cerebral white matter volume OMIM:618185
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Seizure, Small cerebral cortex, Atten... OMIM:608716
Developmental And Epileptic Encephalopathy 58
Inability to walk, Hypsarrhythmia, Seizure, Status epilepticus, Secondary microcephaly, Abnormal ... OMIM:617830
Intellectual Developmental Disorder, X-Linked 72
Seizure, Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration, EEG abnormality, Seizure, Cognitive impairment ORPHA:2216
Developmental And Epileptic Encephalopathy 107
Microcephaly, Tonic seizure, Clonic seizure, Seizure, Abnormal repetitive mannerisms, Progressive... OMIM:620033
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Hypoplasia of the corpus callosum,... OMIM:617862
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... ORPHA:168491
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Hypsarrhyth... OMIM:617113
Macrocephaly, Acquired, With Impaired Intellectual Development
Narrow nasal bridge, Probst bundles, Anteverted nares, Impulsivity, Aggressive behavior, Seizure,... OMIM:618286
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Seizure, Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit h... OMIM:620065
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Subependymal Nodular Heterotopia
Interictal EEG abnormality, Focal cortical dysplasia, Focal-onset seizure, Partial agenesis of th... ORPHA:101030
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... OMIM:619827
Leber Congenital Amaurosis 10
Hyposmia, Seizure OMIM:611755
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Lennox-Gastaut Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... ORPHA:2382
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Aggressive behavior, Basal ganglia calcification, Cerebral atrophy, Leukoencepha... OMIM:221770
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Broad nasal tip, Focal-onset seizure, Cerebral atrophy, Seizure,... OMIM:617393
Lissencephaly 4
Wide nasal bridge, Simplified gyral pattern, Seizure, Colpocephaly, Lissencephaly, Primary microc... OMIM:614019
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... OMIM:616540
Progressive Non-Fluent Aphasia
Restlessness, Neurofibrillary tangles, Frontotemporal dementia, Temporal cortical atrophy, Astroc... ORPHA:100070
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Megalencephaly, Inability to walk, Wide nasal bridge, Astrocytosis, Seizure, Difficulty walking OMIM:611087
Rasmussen Subacute Encephalitis
Subcortical cerebral atrophy, EEG with focal spikes, Interictal epileptiform activity, Hyperactiv... ORPHA:1929
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Hyposmia, Leukoencephalo... OMIM:613724
Mismatch Repair Cancer Syndrome 4
Glioblastoma multiforme, Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum OMIM:619101
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Focal-onset seizure, Chorea, Self-injurious behavior, EEG abnormality, Convuls... OMIM:618760
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... OMIM:618917
Cdkl5-Deficiency Disorder
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Multifocal epileptiform discharge... ORPHA:505652
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... OMIM:616341
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Microcephaly, Inability to walk, Self-injurious behavior, EEG abnormality, Seizure... OMIM:618718
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... OMIM:300495
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Anosmia, Distal sensory impairment, Seizure, Dementia, Gai... OMIM:606693
Lissencephaly Due To Tuba1A Mutation
Agyria, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Hypoplastic anterior limb... ORPHA:171680
Bilateral Striopallidodentate Calcinosis
Seizure, Cerebral calcification, Abnormality of neuronal migration, Microcephaly ORPHA:1980
Childhood Disintegrative Disorder
Social and occupational deterioration, Seizure, Dementia, Progressive language deterioration, Imp... ORPHA:168782
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Microcephaly, Inability to walk, Bulbous nose, Limb ataxia, Self-injuri... OMIM:617695
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Abnormal rep... OMIM:172700
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Globus pallidus calcification, Bilateral tonic-clonic seizure, Aggressive behavior... OMIM:620292
Autism, Susceptibility To, 3
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Seizure, Abno... OMIM:608049
Cln5 Disease
Generalized-onset seizure, Dysmetria, EEG with focal spikes, Hyperactivity, Ataxia, Seizure, Trun... ORPHA:228360
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Shyness, Microcephaly, Bulbous nose, Seizure, Difficulty walking, Hypoplasia of th... ORPHA:280763
Hsd10 Disease
Short attention span, Ataxia, Microcephaly, Choreoathetosis, Seizure, Frontotemporal cerebral atr... ORPHA:391417
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anteverted nares, Prominent nasal bridge, Atonic seizure, Infantile spasms, Broad nasal tip, Inab... ORPHA:411986
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Anteverted nares, Tonic seizure, Inability to wa... OMIM:618497
Hereditary Geniospasm
EEG abnormality, Abnormal social behavior, Chin myoclonus ORPHA:53372
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Prominent nasal bridge, Microcephaly, Inability ... OMIM:619877
Superficial Siderosis
Ataxia, Partial anosmia, Impaired temperature sensation, Impaired pain sensation, Unsteady gait, ... ORPHA:247245
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... ORPHA:208447
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, Thick nasal alae, EEG with polyspik... ORPHA:1942
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Thick co... OMIM:618273
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Mi... ORPHA:89844
Brunet-Wagner Neurodevelopmental Syndrome
Wide nasal bridge, Cerebral atrophy, Myoclonic seizure, Self-injurious behavior, Abnormal repetit... OMIM:619690
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Cerebellar gliosis, EEG with focal spikes, Gliosis, Basa... ORPHA:79243
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Frontal lobe dementia, Dementia, Agitation, Gai... ORPHA:2828
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Anosmia, Painless fr... OMIM:243000
Atypical Rett Syndrome
Restrictive behavior, Generalized myoclonic seizure, Infantile spasms, Impaired pain sensation, I... ORPHA:3095
Band Heterotopia
Subcortical band heterotopia, Gray matter heterotopia, Seizure, Lateral ventricle dilatation, Pol... OMIM:600348
Pontocerebellar Hypoplasia Type 2
Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Simple febr... ORPHA:2524
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spinocerebellar Ataxia 17
Broad-based gait, Diffuse cerebral atrophy, Ataxia, Confusion, Aggressive behavior, Chorea, Dysme... OMIM:607136
Lissencephaly 5
Subcortical band heterotopia, Porencephalic cyst, Leukoencephalopathy, Gray matter heterotopia, S... OMIM:615191
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggre... OMIM:619580
Lissencephaly 6 With Microcephaly
Anteverted nares, Periventricular heterotopia, Microcephaly, Bulbous nose, Partial agenesis of th... OMIM:616212
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Broad nasal tip, Self-injurious behavior, Compulsive behaviors, Attention de... OMIM:613670
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Microcephaly, Bulbous nose, Seizure, Gait disturbance, Inappropriate laugh... OMIM:614104
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Anteverted nares, Seizure, Inappropriate laughter, Hypoplasia of the corpus callosum, Recurrent h... OMIM:618859
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Generalized-onset seizure, Hypoesthesia, Dysplastic corpus callosum... OMIM:619737
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dysplastic corpus callosum, Ataxia, Microcephaly OMIM:618276
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Seizure, Dysgyria, Abnormal cerebral white matter morphology, Type II li... ORPHA:352682
Christianson Syndrome
Generalized-onset seizure, Abnormality of the nose, Microcephaly, Dysphagia, Gait ataxia, Aplasia... ORPHA:85278
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Neurofibrillary tangles, Seizure, Dementia, Agitation, Disinhibition, Semantic... ORPHA:1020
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Microcephaly, Seizure, Attention deficit hyperactivity disorder, Abnormal repetit... OMIM:618906
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosu... OMIM:616171
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Depressed nasal bridge, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:444002
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Microcephaly, EEG with burst suppression, Wide nasal bridge, Neuro... ORPHA:168486
Rett Syndrome, Congenital Variant
Depressed nasal bridge, Chorea, Tongue thrusting, Bulbous nose, Simplified gyral pattern, Athetos... OMIM:613454
Intellectual Developmental Disorder, X-Linked 98
Long nose, Self-biting, Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Anteverted nares, ... OMIM:300912
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Brain Small Vessel Disease 2
Schizencephaly, Subcortical heterotopia, Bilateral tonic-clonic seizure, Focal-onset seizure, Por... OMIM:614483
Familial Infantile Myoclonic Epilepsy
Interictal EEG abnormality, Thick cerebral cortex, EEG with focal spike waves, Bilateral tonic-cl... ORPHA:352582
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia, Seizure, Cognitive impairment, Dysphagia OMIM:617008
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... OMIM:619428
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Anteverted nares, Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Simplified gy... OMIM:620001
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Abnormal c... ORPHA:79264
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Prominent n... OMIM:618218
Periventricular Nodular Heterotopia 7
Ataxia, Anteverted nares, Infantile spasms, Cortical dysplasia, Generalized non-motor (absence) s... OMIM:617201
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Prominent nasal bridge, Aggressive behavior, Microcephaly, Gait ataxia, Abnormal r... OMIM:609425
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Astrocytosis, Se... ORPHA:258
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Impulsivity, Akinesia, Dementia, Agitation, Shuffling gait, Gliosis, Dysphagia, Ment... ORPHA:411602
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Broad nasal tip, Microcephaly, Seizure, Abnormal temper tantrums, Abnormal... ORPHA:530983
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, EEG abnormality, Seizure, Lissencephaly, Polymicrogyria... OMIM:614833
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Anteverted nares, Prominent nasal bridge, Aggressive behavior, Underdeveloped... OMIM:618825
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular heterotopia, Periventricular cysts, Seizure, Hypoplasia of the corpus cal... ORPHA:255138
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Prominent nasal bridge, Periventricular heterotopia, Seizure, Attention d... OMIM:618974
Apnea, Obstructive Sleep
Anosmia, Focal impaired awareness seizure OMIM:107650
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Chorea, Nocturnal seizures, Myoclonus, Atte... OMIM:619725
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Seizure, Anosmia OMIM:610628
Lopes-Maciel-Rodan Syndrome
Caudate atrophy, Unsteady gait, Bruxism, Cerebral atrophy, Seizure, Agitation, Focal impaired awa... OMIM:617435
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with... ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, M... OMIM:617600
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Depressed nasal bridge, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Bulbous n... OMIM:619103
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Anteverted nares, Microcephaly, Repetitive compulsive behavior, Wide nasal bridge,... ORPHA:352490
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:618067
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum, Short nose, Simplified gyral pa... OMIM:619179
Bardet-Biedl Syndrome 19
Hyposmia, Hypoplasia of the corpus callosum OMIM:615996
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Microcephaly, Inability to walk, Focal-onset seizure, Dysphagia, Cerebral... OMIM:617802
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Anosmia, Distal sensory impairment, Steppage gait, Pos... OMIM:601152
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Microcephaly, Abnormal repetitive mannerisms, Self-injurious behavior, Sei... ORPHA:228402
Congenital Muscular Dystrophy Without Intellectual Disability
Microcephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Tip-toe gait, D... ORPHA:370980
Xq28 (MECP2) duplication
Depressed nasal bridge, Microcephaly, Inability to walk, Gait ataxia, Seizure, Hypoplasia of the ... DECIPHER:45
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Seizure, Hypoplasia of the corpus cal... OMIM:300049
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Inability to walk, Seizure, Abnormal cerebral white mat... OMIM:613443
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
Developmental And Epileptic Encephalopathy 64
Anteverted nares, Depressed nasal bridge, Broad nasal tip, Microcephaly, Inability to walk, Chore... OMIM:618004
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Microcephaly, Focal-onset seizure,... OMIM:619092
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... OMIM:301029
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Seizure, Anosmia OMIM:244200
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration, Seizure, Gait disturbance, Short nose ORPHA:3307
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... ORPHA:98784
Intellectual Developmental Disorder, X-Linked 12
Microcephaly, Abnormality of neuronal migration, Seizure, Abnormal cerebral white matter morpholo... OMIM:300957
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia, Total anosmia OMIM:614879
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Inability to walk, Focal-onset seizure, Delayed early-child... ORPHA:300570
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Cerebral calcificati... OMIM:617281
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Generalized-onset seizure, Ataxia, Prominent nasal bridge, Inability to wa... ORPHA:357058
Alg11-Cdg
Cerebral white matter atrophy, Ataxia, Microcephaly, EEG with burst suppression, Cerebral atrophy... ORPHA:280071
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Diminished ability to concentrate, Fe... OMIM:615516
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Absent septum pellucidum, Anosmia, Seizure, Polydipsia, Agenesis of corpus... ORPHA:3157
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Cerebral calcification, Ataxia, Periventricular heterotopia, Focal-onset seizure, Bulbous nose, H... OMIM:618476
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Infantile spasms, Myoclonic seizure, Dysphagia, Pachygyri... ORPHA:572013
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Polyphagia OMIM:617885
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... ORPHA:64280
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Akinesia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuo... OMIM:601104
X-Linked Intellectual Disability, Cantagrel Type
Seizure, Hypoplasia of the corpus callosum, Short nose, Abnormal repetitive mannerisms, Cerebral ... ORPHA:85277
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Anosmia, Short nose, Short nasal septum OMIM:302950
Oculocerebrocutaneous Syndrome
Cleft ala nasi, Gray matter heterotopia, Seizure, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:164180
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Lewy bodies, Dementia, Substantia nigra gliosis OMIM:607060
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Agenesis of corpus callosum, Anosmia, Choanal atresia OMIM:147950
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Anteverted nares, Depressed nasal bridge, Wide nose, Aggressiv... OMIM:600430
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Broad nasal tip, Generalized non-motor... OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Anteverted nares, Prominent nasal bridge, Microcephaly, Seizure, Lateral ventricle... OMIM:617751
Radio-Tartaglia Syndrome
Ataxia, Anteverted nares, Impulsivity, Aggressive behavior, Depressed nasal bridge, Prominent nas... OMIM:619312
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Astr... OMIM:203700
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Cessation of head growth, E... ORPHA:411511
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure OMIM:613886
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Microcephaly, Gray matter heterotopia, Seizure, Thin corpus callosum OMIM:619694
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Microcephaly, Prominent nose, Aggressive behavior, Abnormal repetitive mannerisms OMIM:615541
5Q14.3 Microdeletion Syndrome
Anteverted nares, Seizure, Hypoplasia of the corpus callosum, Frontal cortical atrophy, Short nos... ORPHA:228384
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia,... OMIM:607485
Bardet-Biedl Syndrome 17
Hyposmia, Polydipsia, Anosmia, Cognitive impairment OMIM:615994
3-Hydroxyisobutyric Aciduria
Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly OMIM:236795
Gorlin Syndrome
Cerebral calcification, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Galloway-Mowat Syndrome 6
Anteverted nares, Microcephaly, Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of lau... OMIM:618347
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Wide nasal bridge, Head-banging, EEG abnorm... OMIM:182290
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Self-injurious behavior, Seizu... ORPHA:449291
Neonatal Adrenoleukodystrophy
Anteverted nares, Abnormality of neuronal migration, Wide nasal bridge, EEG abnormality, Seizure ORPHA:44
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum OMIM:231950
Fragile X Syndrome
Hyperactivity, Periventricular heterotopia, Self-biting, Seizure, Recurrent hand flapping OMIM:300624
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, I... OMIM:616488
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo... ORPHA:488627
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Anteverted nares, Depressed nasal bridge, Tonic seizure, Prominent na... OMIM:300260
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Microcephaly, EEG abnormality, Seizure, Hypoplasia of t... OMIM:610883
Hydrolethalus
Anencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Abnormality of the sense of s... ORPHA:2189
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Broad nasal tip,... OMIM:618354
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Anteverted nares, Prominent nasal bridge, Dysplastic corpus callosum, Bulbous nose, Cerebral atro... OMIM:616900
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Bifid nose OMIM:614838
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Depressed nasal bridge, Infantile spasms, Underdeveloped nasal al... ORPHA:457351
Autosomal Recessive Primary Microcephaly
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... ORPHA:2512
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Choreoathetosis, Myoclonic seizure, Pachygyria, Abnormal repetitive manneris... OMIM:619777
Cockayne Syndrome Type 3
Cerebral white matter atrophy, Progressive neurologic deterioration, Narrow nose, Basal ganglia c... ORPHA:90324
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Depressed nasal bridge, Infantile spasms, Aggressive behavior, Microcephaly, Hair-pulling... OMIM:616393
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Epileptic spasm, Generalized-onset seizure, Cerebral calcification, Bilat... OMIM:620024
Coffin-Siris Syndrome 6
Depressed nasal bridge, Broad nasal tip, Seizure, Tics, Attention deficit hyperactivity disorder,... OMIM:617808
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Microcephaly, Seizure, Agitation, Cognitive impairment, Abnormal repetitive ma... ORPHA:927
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Anteverted nares, Aggressive behavior, Microcephaly, Wide na... OMIM:618342
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Seizure, Secondary microcephaly, Attent... OMIM:620242
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Anosmia OMIM:266500
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Underdeveloped nasal alae, Self-injurious behavior, Seizure, Gait di... OMIM:300986
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Bulbous nose, Seizure, Diminished ability to concentrate, Attention deficit hyperactivity... OMIM:615656
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Microcephaly, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Attention... OMIM:619121
Den Hoed-De Boer-Voisin Syndrome
EEG with focal spike waves, Abnormal repetitive mannerisms, Ataxia, Nocturnal seizures, Hypsarrhy... OMIM:619229
Hypomelanosis Of Ito
Gray matter heterotopia, Seizure, Cerebral atrophy, Microcephaly OMIM:300337
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Generalized-onset seizure, Reduced cerebral white matter volume, Microcephaly, ... OMIM:617807
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Anteverted nares, Infantile spasms, Inability to ... OMIM:300672
Snijders Blok-Campeau Syndrome
Broad-based gait, Infantile spasms, Prominent nose, Unsteady gait, Wide nasal bridge, Myoclonic s... OMIM:618205
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Anteverted nares, Prominent nasal bridge, Microcephaly, Seizure, Hypoplasia of the corpus callosu... ORPHA:500159
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Seizure, Gait disturbance, Gliosis, Abnormal repeti... ORPHA:457240
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, Abnormality of the sense of smell ORPHA:3201
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Broad nasal tip, Repetitive compulsive behavior, Recurrent upper respirator... ORPHA:391372
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal basal ganglia MRI signal intensity, Microcephaly, Abnormal globus pallidus morphology, A... ORPHA:309854
Angelman Syndrome
Hyperactivity, Ataxia, Cerebral dysmyelination, Tongue thrusting, EEG abnormality, Seizure, Myocl... ORPHA:72
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Microcephaly, Chorea, A... ORPHA:2162
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Bilateral tonic-clonic seizure, Depressed nasal bridge, Infantile spasms, Hair-pul... ORPHA:447997
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Frontotemporal dementia, Dysphagia OMIM:612069
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, Anteverted nares, Depressed nasal bridge, Microcephaly, Abnormality of... ORPHA:261236
Amoebiasis Due To Free-Living Amoebae
Restlessness, Ataxia, Confusion, Abnormal basal ganglia morphology, Seizure, Abnormal cerebral wh... ORPHA:68
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Decreased nerve conduction ... OMIM:609136
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... ORPHA:98889
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Progressive neurologic deterioration, Microc... OMIM:252650
Dworschak-Punetha Neurodevelopmental Syndrome
Depressed nasal bridge, Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis... OMIM:619955
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Abnormality of neuronal migration, Seizure, Short nose ORPHA:1895
Ritscher-Schinzel Syndrome 4
Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... OMIM:619435
Joubert Syndrome
Ataxia, Anteverted nares, Prominent nasal bridge, Abnormality of neuronal migration, Aplasia/Hypo... ORPHA:475
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Depressed nasal bridge, Aggressive behavior, Bulbous nose, Seizure, Compul... OMIM:618430
Leber Congenital Amaurosis
Seizure, Abnormality of neuronal migration ORPHA:65
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide nose, Anteverted nares, Narrow nasal ridge, Underdeveloped nasal alae, Wide nasal bridge, Se... OMIM:619293
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Desmosterolosis
Depressed nasal bridge, Abnormal cortical gyration, Absent septum pellucidum, Abnormality of the ... ORPHA:35107
Kallmann Syndrome
Ataxia, Anosmia, Seizure, Gait disturbance, Hyposmia ORPHA:478
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Narrow nasal bridge, Depressed nasal bridge, Wide nasal bridge, Seizure, Agenesis of corpus callo... OMIM:620073
Choreoacanthocytosis
Caudate atrophy, Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory... ORPHA:2388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormal periventricular white matter morphology, Pachygyria, Abnormality of neuronal migration OMIM:608840
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Attention deficit hyperactivity di... OMIM:620141
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Broad nasal tip, Microcephaly, Self-biting, Seizure, Abnormal... ORPHA:3306
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Rett Syndrome
Gait apraxia, Bruxism, Gait ataxia, EEG abnormality, Seizure, Secondary microcephaly, Truncal ata... OMIM:312750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Anosmia, Ataxia OMIM:308700
Smith-Magenis Syndrome
Anteverted nares, Depressed nasal bridge, Impaired pain sensation, Microcephaly, Wide nasal bridg... ORPHA:819
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Depressed nasal bridge, Infantile spasms, Impulsivity, Periventricular heterotopia, Self-injuriou... OMIM:618929
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Ataxia, Abnormal cortical gyration, Anteverted nares, Aggressive behavior, Bulbous nos... ORPHA:314647
Musk, Inability To Smell
Anosmia OMIM:254150
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Gray matter heterotopia, Short columella, Impaired socia... OMIM:619775
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Anteverted nares, Microcephaly, Wide nasal bridge, Abnormality of neuronal migration, Seizure, Ce... ORPHA:2518
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
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
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Depressed nasal bridge, Aggressive behavior, Microcephaly, Bulbous nose, Wide... OMIM:617061
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia, Microcephaly ORPHA:2316
Thanatophoric Dysplasia Type 2
Seizure, Depressed nasal bridge, Abnormality of neuronal migration, Cognitive impairment ORPHA:93274
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Microcephaly, Anosmia, Pyrif... OMIM:147250
Refsum Disease
Anosmia, Ataxia ORPHA:773
Galloway-Mowat Syndrome
Microcephaly, Abnormality of neuronal migration, EEG abnormality, Seizure, Cognitive impairment, ... ORPHA:2065
Walker-Warburg Syndrome
Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pachygyria, Abnormality of ne... ORPHA:899
Periventricular Nodular Heterotopia 9
Broad-based gait, Microcephaly, Focal-onset seizure, Gray matter heterotopia, Interictal epilepti... OMIM:618918
4Q21 Microdeletion Syndrome
Depressed nasal bridge, Self-injurious behavior, Seizure, Agenesis of corpus callosum, Abnormal r... ORPHA:238750
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration, Microcephaly ORPHA:2204
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... ORPHA:313892
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Microcephaly, Seizure, Gait disturbance, Impaired social i... OMIM:300352
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Ataxia OMIM:308750
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Abnormality of the sense of smell OMIM:616113
Macrocephaly-Developmental Delay Syndrome
Wide nasal bridge, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, EEG with gen... ORPHA:397612
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Bulbous nose, Periventricular cysts, Thick corpu... ORPHA:544488
Vici Syndrome
Depressed nasal tip, Gray matter heterotopia, EEG abnormality, Seizure, Agenesis of corpus callos... ORPHA:1493
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Depressed nasal bridge, Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (abse... OMIM:615802
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Prominent nose, Aggressive behavior, Microcephaly, Abnormal cerebral white matter ... ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, ... OMIM:617796
Chromosome 5P13 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Self-injurious behavior, Seizure, Agenesis of corpus callosum, C... OMIM:613174
8Q21.11 Microdeletion Syndrome
Wide nose, Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Abnormality of t... ORPHA:284160
Man1B1-Cdg
Broad-based gait, Wide nose, Prominent nose, Periventricular heterotopia, Wide nasal bridge, Seiz... ORPHA:397941
Joubert Syndrome With Oculorenal Defect
Anteverted nares, Prominent nasal bridge, Ataxia, Abnormality of neuronal migration, Aplasia/Hypo... ORPHA:2318
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Meningioma
Hemifacial spasm, Ataxia, Focal-onset seizure, Abnormality of the sense of smell, Seizure, Transi... ORPHA:2495
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Anteverted nares, Bilateral tonic-clonic seizure, Secondary microcephaly, Bruxi... OMIM:616351
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Seizure, Di... ORPHA:531151
Rett Syndrome
Inability to walk, EEG abnormality, Seizure, Progressive microcephaly, Gait disturbance, Agitatio... ORPHA:778
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Ataxia, Bilateral tonic-clonic seizure, Anteverted nares, Prominen... ORPHA:435638
Optic Atrophy-Intellectual Disability Syndrome
Anteverted nares, Prominent nasal bridge, Repetitive compulsive behavior, Seizure, Attention defi... ORPHA:401777
Foxg1 Syndrome Due To 14Q12 Microdeletion
Depressed nasal bridge, Microcephaly, Bulbous nose, Seizure, Agenesis of corpus callosum, Short n... ORPHA:261144
22Q11.2 Duplication Syndrome
Wide nose, Microcephaly, Depressed nasal ridge, Seizure, Attention deficit hyperactivity disorder... ORPHA:1727
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Impaired pain sensation, Microcephaly, Bulbous nose, Tongu... OMIM:606232
Intellectual Developmental Disorder, Autosomal Dominant 64
Anteverted nares, Depressed nasal bridge, Microcephaly, Bulbous nose, Seizure, Attention deficit ... OMIM:619188
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Even-Plus Syndrome
Bifid nasal tip, Dysplastic corpus callosum, Depressed nasal ridge, Short nose, Agenesis of corpu... OMIM:616854
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Microcephaly, Wide nasal bridge, Diffic... OMIM:123450
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Intellectual Developmental Disorder, Autosomal Recessive 71
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Congenital Muscular Dystrophy With Cerebellar Involvement
Microcephaly, Diffuse white matter abnormalities, Gray matter heterotopia, Seizure, Polymicrogyri... ORPHA:370959
Alazami Syndrome
Wide nose, Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, St... ORPHA:319671
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Depressed nasal bridge, Periventricular heterotopia, Aggressive behavior, Microcephaly, S... OMIM:619833
Metachromatic Leukodystrophy, Adult Form
Short attention span, Decreased nerve conduction velocity, Chorea, Progressive psychomotor deteri... ORPHA:309271
Cerebrofacioarticular Syndrome
Ataxia, Microcephaly, Bilateral choanal atresia/stenosis, Dysplastic corpus callosum, Wide nasal ... ORPHA:314679
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Microcephaly, Bulbous nose, Simplified gyral pattern, Gray matter heterotopia, Seizure, Colpoceph... OMIM:615219
Wilson Disease
Decreased nerve conduction velocity, Hypoesthesia, Seizure, Dementia, Dysphagia, Hyposmia OMIM:277900
White-Sutton Syndrome
Waddling gait, Hyperactivity, Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Micro... OMIM:616364
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Wide nasal bridge, Head-banging, Seizure, Status epilep... OMIM:618569
Chiari Malformation Type Ii
Gray matter heterotopia, Agenesis of corpus callosum, Ataxia, Dysphagia OMIM:207950
Hijazi-Reis Syndrome
Seizure, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Depressed nasal bridge, Anteverted nares, Periventricular heterotopia, Microcephaly, Bulbous nose... OMIM:614105
Joubert Syndrome 30
Gray matter heterotopia, Seizure OMIM:617622
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309263
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Hypsarrhythmia, Gait a... ORPHA:75857
Miller-Dieker Lissencephaly Syndrome
Epileptic spasm, Anteverted nares, Infantile spasms, Microcephaly, Wide nasal bridge, Seizure, Gr... OMIM:247200
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Prominent nose, Long nose, Gait ataxia, Seizure, Abnormal repetitive mannerisms, S... OMIM:300486
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Depressed nasal bridge, Microcephaly, Abnormality of neuronal migrat... ORPHA:192
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
48,Xxyy Syndrome
Seizure, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:10
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Abnormal cerebral white matter morphology, L... ORPHA:457279
8P11.2 Deletion Syndrome
Seizure, Anosmia, Depressed nasal bridge, Microcephaly ORPHA:251066
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Prominent nasal bridge, Periventricular heterotopia, Microcephaly, Cortical dysplasia, Simplified... ORPHA:468631
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Neurocutaneous Melanocytosis
EEG abnormality, Seizure, Abnormality of neuronal migration ORPHA:2481
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Microcephaly, Hypoplasia of the corpus callosum, Difficulty walking, Hyposmia, Abnormal repetitiv... OMIM:618653
White-Sutton Syndrome
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Broad nasal tip, Microcephaly, Self-i... ORPHA:468678
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Depressed nasal bridge, Anteverted nares, Infantile spasms, Cerebral atrophy, Gray matter heterot... OMIM:618797
Coffin-Siris Syndrome 7
Hyperactivity, Wide nose, Severe temper tantrums, Anteverted nares, Depressed nasal bridge, Compu... OMIM:618027
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Seizure, Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Microcephaly ORPHA:2772
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Seizure, Impaired social interactions, Attention deficit hyperactivity disorder,... ORPHA:261197
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Primary microcephaly, Gait ataxia, Seizure, Secondary microcephaly, Attentio... ORPHA:476126
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Prader-Willi Syndrome Due To Translocation
Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Microcephaly, Head-bangin... ORPHA:177907
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait,... ORPHA:309256
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Gray matter heterotopia, Seizure, Lateral ventricle dilatat... OMIM:617397
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Thanatophoric Dysplasia
Gray matter heterotopia, Seizure, Depressed nasal bridge ORPHA:2655
Acalvaria
Abnormality of neuronal migration ORPHA:945
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Pachygyria, Abnormality of neuronal migration, Abnormal basal ganglia mor... ORPHA:157
Neuromuscular Oculoauditory Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Periventricular heterotopia, Decreased nerve co... OMIM:618733
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Microcephaly, Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Anteverted nares, Depressed nasal bridge, Impaired pain sensation, Underdeveloped nasal alae, EEG... OMIM:619005
Megalocornea-Intellectual Disability Syndrome
Ataxia, Microcephaly, Wide nasal bridge, EEG abnormality, Seizure, Abnormal repetitive mannerisms ORPHA:2479
Moebius Syndrome
Abnormality of the sense of smell, Dysphagia ORPHA:570
Oculoskeletodental Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Thick nasal alae, Focal wh... ORPHA:557003
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Abnormal periventricular white matter morphology OMIM:615960
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Intracerebral periventricular calcifications, Microcephaly, Bulbous nose, Abnormality of neuronal... OMIM:608836
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Depressed nasal bridge, Anteverted nares, Absent septum pellucidum, Periventricular heterotopia, ... OMIM:618870
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Broad nasal tip, Bifid nasal tip, Wide nasal bridge, Gray matt... OMIM:603671
Joubert Syndrome With Hepatic Defect
Anteverted nares, Ataxia, Prominent nasal bridge, Abnormality of neuronal migration, Aplasia/Hypo... ORPHA:1454
2Q37 Microdeletion Syndrome
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Microcephaly, Seizure, Atten... ORPHA:1001
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Gray matter ... OMIM:617822
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Bulbous nose, Pachygyria, Polymicrogyria ORPHA:2328
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Isolated Follicle Stimulating Hormone Deficiency
Anosmia ORPHA:52901
Bainbridge-Ropers Syndrome
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Broa... OMIM:615485
Multiple Acyl-Coa Dehydrogenase Deficiency
Depressed nasal bridge, Inability to walk, Gray matter heterotopia, Seizure, Gliosis, Dysphagia ORPHA:26791
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Seizure, Dysplastic corpus callosum, Anteverted nares, Wide nasal bridge OMIM:618810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia... OMIM:614643
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Prominent nasal bridge, Simple febrile seizure, Microcephaly, Abnormality of neuronal migration, ... ORPHA:464311
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,... OMIM:619475
Peroxisome Biogenesis Disorder 13A (Zellweger)
Depressed nasal bridge, Wide nasal bridge, Gray matter heterotopia, Seizure, Polymicrogyria OMIM:614887
Orofaciodigital Syndrome Type 6
Ataxia, Prominent nasal bridge, Broad nasal tip, Abnormality of neuronal migration, Aplasia/Hypop... ORPHA:2754
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Anteverted nares, Depressed nasal bridge, Micro... ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive beh... OMIM:620330
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Intracerebral periventricular calcifications, Cerebral calcification, Pachygyria, Abnormality of ... ORPHA:228308
Nmda Receptor Encephalitis
Short attention span, Generalized-onset seizure, Confusion, Hypersexuality, EEG with temporal sha... ORPHA:217253
Periventricular Nodular Heterotopia
Focal-onset seizure, Periventricular heterotopia ORPHA:98892
Niemann-Pick Disease Type C
Generalized-onset seizure, Progressive neurologic deterioration, Chorea, Progressive gait ataxia,... ORPHA:646
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Hypoplas... OMIM:618914
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Bilateral tonic-clonic seizure, Ataxia, Primary microcephaly, Secondary microcephaly, Hypoplasia ... ORPHA:496641
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Broad nasal tip, Unsteady gait, Polyphagia, Si... ORPHA:96121
Congenital Disorder Of Glycosylation, Type Iia
Prominent nasal bridge, Convex nasal ridge, Aggressive behavior, Microcephaly, Unsteady gait, Sei... OMIM:212066
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Abnormal repetitive mannerisms ORPHA:529965
Niemann-Pick Disease, Type C2
Ataxia, Neurofibrillary tangles, Seizure, Dementia, Dysphagia, Abnormal repetitive mannerisms OMIM:607625
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Impulsivity, Shyness, Microcephaly, Cerebral atrophy, Seizure, Attention ... OMIM:301030
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Microcephaly... ORPHA:319182
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Inability to walk, Depressed nasal bridge, Ataxia OMIM:617563
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Koolen-De Vries Syndrome
Hyperactivity, Prominent nasal bridge, Impulsivity, Microcephaly, Bulbous nose, Pear-shaped nose,... OMIM:610443
Tuberous Sclerosis Complex
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... ORPHA:805
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Depressed nasal bridge, Head-banging, Self-injurious behavior, Seizure, Lat... OMIM:619575
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Prominent nasal bridge, Microcephaly OMIM:604273
Combined Oxidative Phosphorylation Deficiency 53
Seizure, Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Holoprosencephaly 14
Anteverted nares, Bilateral tonic-clonic seizure, Proboscis, Periventricular heterotopia, Absent ... OMIM:619895
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Pachygyria, Depressed nasal ridge, Abnormality of neuronal migration,... ORPHA:2211
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Bilateral tonic-clonic seizure, Narrow nasal ridge, Tonic seizure, Microcephaly, B... OMIM:619512
Neu-Laxova Syndrome
Cerebral calcification, Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Pachy... ORPHA:2671
Bohring-Opitz Syndrome
Depressed nasal bridge, Anteverted nares, Microcephaly, Wide nasal bridge, Gray matter heterotopi... OMIM:605039
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Seizure, Hypoplasia of the corpus callosum, Agen... OMIM:614924
Kleefstra Syndrome 1
Anteverted nares, Aggressive behavior, Microcephaly, Seizure, Compulsive behaviors, Abnormal repe... OMIM:610253
Pilarowski-Bjornsson Syndrome
Seizure, Abnormal repetitive mannerisms OMIM:617682
Pitt-Hopkins Syndrome
Microcephaly, Flared nostrils, Wide nasal bridge, Gait ataxia, Self-injurious behavior, Seizure, ... OMIM:610954
Occipital Horn Syndrome
Abnormality of the sense of smell, Cerebral calcification, Dysphagia ORPHA:198
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Absent septum pellucidum, Dysplastic corpus callosum, Gray matter hete... OMIM:618820
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Peroxisome Biogenesis Disorder 1A (Zellweger)
Anteverted nares, Unsteady gait, Aplasia/Hypoplasia of the corpus callosum, Seizure, Gray matter ... OMIM:214100
16Q24.3 Microdeletion Syndrome
Anteverted nares, Periventricular heterotopia, Seizure, Colpocephaly, Hypoplasia of the corpus ca... ORPHA:261250
Kleefstra Syndrome
Anteverted nares, Aggressive behavior, Microcephaly, Self-injurious behavior, Seizure, Agenesis o... ORPHA:261494
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Underdeveloped nasal alae, Microcephaly, Wide nasal bridge, Gray matter ... ORPHA:453499
Monosomy 22Q13.3
Hyperactivity, Impaired pain sensation, Hair-pulling, Bulbous nose, Wide nasal bridge, Seizure, B... ORPHA:48652
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Anteverted nares, Aggres... OMIM:614756
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hyposmia, Anosmia, Absent nares, Single naris ORPHA:2250
Nijmegen Breakage Syndrome
Depressed nasal bridge, Prominent nasal bridge, Glioma, Prominent nose, Microcephaly, Abnormality... ORPHA:647
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Anteverted nares, Tonic seizure, Broad nasal tip, Abnormal repetitive mannerisms, ... OMIM:615873
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Oligodendroglioma, Ependymom... OMIM:276300
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Seizure, Depressed nasal bridge ORPHA:1860
Opitz-Kaveggia Syndrome
Choanal atresia, Prominent nose, Partial agenesis of the corpus callosum, Gray matter heterotopia... OMIM:305450
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Wide nasal bridge, Gray matter heterotopi... OMIM:601390
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Short attention span, Multifocal seizures, Depressed nasal bridge... OMIM:301066
3C Syndrome
Short nose, Wide nasal bridge, Depressed nasal bridge, Abnormality of neuronal migration ORPHA:7
Charge Syndrome
Depressed nasal bridge, Choanal atresia, Microcephaly, Anosmia, Compulsive behaviors, Attention d... ORPHA:138
Rauch-Steindl Syndrome
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Microcephaly, Wide nasal bridge, Abno... OMIM:619695
Aicardi Syndrome
Epileptic spasm, Anteverted nares, Infantile spasms, Microcephaly, Partial agenesis of the corpus... OMIM:304050
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Pain insensitivity, Ataxia, Anteverted nares, Prominent nasal bridge, Broad nas... OMIM:617330
Mucopolysaccharidosis Type 2
Short attention span, Hyperactivity, Wide nose, Impulsivity, Aggressive behavior, Progressive neu... ORPHA:580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Underdeveloped nasal alae, Inability to walk, Typical absence seizure, B... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Underdeveloped nasal alae, Inability to walk, Typical absence seizure, B... ORPHA:352665
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Anteverted nares, Infantile spasms, Choanal ... OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Ataxia, Impulsivity, Prominent nose, Aggressive behavior, Dysplastic corpus ... OMIM:300967
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Generalized-onset seizure, Anteverted nares, Depressed nasal bridge, Microcephaly, Long nose, Ina... ORPHA:508533
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Narrow nasal bridge, Ataxia, Prominent nasal bridge, Shyness, Aggressive behavior, Prominent nose... ORPHA:466791
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae OMIM:608624
Vici Syndrome
Wide nose, Schizencephaly, Depressed nasal bridge, Microcephaly, Gray matter heterotopia, Seizure... OMIM:242840
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Anteverted nares, Depressed nasal bridge, Bilateral tonic-clonic seizure, Microcephaly, Cerebral ... OMIM:301040
Kinsship Syndrome
Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Bulbous nose, Generalized non-... OMIM:619297
Lacrimoauriculodentodigital Syndrome
Seizure, Anosmia, Choanal atresia, Dysphagia ORPHA:2363
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Anteverted nares, Abnormal cortical gyration, Progressive neurologic deterioration, Prominent nos... OMIM:210710
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Narrow nasal tip, Prominent nasal bridge, Microcephaly, Seizure, Gait disturbance,... ORPHA:464306
Van Maldergem Syndrome 2
Depressed nasal bridge, Subcortical band heterotopia, Wide nasal bridge, Gray matter heterotopia,... OMIM:615546
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Seizure OMIM:219730
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Temporal lobe dysplasia OMIM:187600
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Dysplastic corpus callosum, Low hanging columella ORPHA:363444
Witteveen-Kolk Syndrome
Hyperactivity, Wide nose, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Aggre... OMIM:613406
Orofaciodigital Syndrome I
Abnormal cortical gyration, Underdeveloped nasal alae, Microcephaly, Porencephalic cyst, Wide nas... OMIM:311200
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corpus callosum, ... OMIM:619426
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Choanal atresia, Aplasia of the nose OMIM:603457
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Absent septum pellucidum, Cortical dysplasia, Anencephaly, Gray matter heterotopia, Seizure, Abno... OMIM:615287
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Depressed nasal bridge, Abnormal cerebral cortex morphology, Dysplasti... ORPHA:500150
Zttk Syndrome
Depressed nasal bridge, Dysplastic corpus callosum, Wide nasal bridge, Seizure, Abnormal cerebral... OMIM:617140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Mowat-Wilson Syndrome
Large basal ganglia, Abnormal repetitive mannerisms, Broad columella, Agenesis of corpus callosum... ORPHA:2152
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Depressed nasal bridge, Broad nasal tip, Microcephaly, Bulbous nose, Cerebral atro... OMIM:309590
Charge Syndrome
Choanal atresia, Microcephaly, Anosmia, Dysphagia, Self-mutilation OMIM:214800
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Microcephaly, Dysplastic corpus callosum, Choanal stenosis, Agenesis of corpus c... OMIM:151050
1P36 Deletion Syndrome
Depressed nasal bridge, Microcephaly, Polyphagia, Wide nasal bridge, Depressed nasal ridge, Self-... ORPHA:1606
Smith-Lemli-Opitz Syndrome
Hyperactivity, Diffuse cerebral atrophy, Anteverted nares, Depressed nasal bridge, Periventricula... OMIM:270400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Large basal ganglia, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Focal hypointen... ORPHA:261537
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Depressed nasal bridge, Underdeveloped... OMIM:300855
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Microcephaly, Bulbous nose, Unsteady gait, Seizure, Loss of ambulation, Abnormal repetitive manne... OMIM:616682
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Anteverted nares, Broad nasal tip, Long nose, Microcephaly, Bulbous... OMIM:619522
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Large basal ganglia, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Focal hypointen... ORPHA:261552
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microcephaly, Abnormal repetitive mannerisms, Wide nasal bridge, Hypoplasia of the corpus callosu... ORPHA:508498
Arboleda-Tham Syndrome
Prominent nasal bridge, Broad nasal tip, Bifid nasal tip, Microcephaly, Seizure, Gait imbalance, ... OMIM:616268
Wolf-Hirschhorn Syndrome
Absent septum pellucidum, Microcephaly, Wide nasal bridge, Periventricular cysts, EEG abnormality... OMIM:194190
Primrose Syndrome
Restlessness, Cerebral calcification, Ataxia, Anteverted nares, Depressed nasal bridge, Aggressiv... OMIM:259050
Arima Syndrome
Gray matter heterotopia, Polydipsia, Ataxia OMIM:243910
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bilateral tonic-clonic seizure, Prominent nasal bridge, Anteverted nares, Depressed nasal bridge,... OMIM:612474
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, EEG abnormality, Seizure, Compulsive behaviors, Attention deficit hypera... ORPHA:534
Coffin-Siris Syndrome 12
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Micr... OMIM:619325
Norrie Disease
Narrow nasal bridge, Microcephaly, Self-injurious behavior, Seizure, EEG abnormality, Attention d... ORPHA:649
Genitopatellar Syndrome
Wide nose, Prominent nasal bridge, Periventricular heterotopia, Prominent nose, Microcephaly, Wid... OMIM:606170
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration, Aplasia of the nose, Microcephaly ORPHA:3186
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Absent septum pellucidum, Anencephaly, Gray matter heterotopia, Bifid... OMIM:236680
Fontaine Progeroid Syndrome
Depressed nasal bridge, Periventricular heterotopia, Microcephaly, Gray matter heterotopia, Hypop... OMIM:612289
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Microcephaly, Bulbous nose, Partial agenesis of the corpus callosum,... ORPHA:434179
Pagod Syndrome
Abnormality of neuronal migration, Microcephaly ORPHA:991
Lowe Oculocerebrorenal Syndrome
Seizure, Abnormal repetitive mannerisms, Periventricular cysts, Aggressive behavior OMIM:309000
Orofaciodigital Syndrome Xiv
Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosum, Simplified gy... OMIM:615948
Proteus Syndrome
Depressed nasal bridge, Anteverted nares, Gray matter heterotopia, Seizure, Thick nasal alae ORPHA:744

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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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 Insertion Mice

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