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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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
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Cortical dysplasia, Focal aware seizure, Generalized-onset seizure, Bilateral toni... OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Abnormal temper tantrums, Focal-onset seizure, Hyperactivity, EEG w... 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
Depression, Attention deficit hyperactivity disorder OMIM:613003
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Familial Alzheimer-Like Prion Disease
Emotional lability, Depression, Deficit in phonologic short-term memory, Cognitive impairment, At... ORPHA:280397
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Inappropriate behavior, Restrictive behavior, Frontotemporal dem... ORPHA:275864
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Seizure, Bilateral tonic-clonic seizure, Inflexible adheren... OMIM:608636
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Frontotemporal dementia, Memory impairment, Astrocytosis, Myoclonus, Gait... OMIM:600795
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Epileptic spasm, Generalized myoclonic seizure, Inability to walk, Hy... ORPHA:599373
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Cortical dysplasia, Seizure, Abnormal corpus callosum morphology, Microcephaly, Abnormality of ne... OMIM:618709
Autism, Susceptibility To, 8
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormalit... OMIM:607373
Autism
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormalit... OMIM:209850
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, EEG with focal slow activity, Polymicrogyria, Abnormal basal g... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Hypoplasia of the corpus callosum, Thin corpus callosum, Cortical dysplasia, Seizure, Agyria, Gra... OMIM:615411
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Frontotemporal dementia, Memory impairment, Astrocytosis, EEG wi... ORPHA:100070
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypoplasia of the corpus callosum, Hyperactivity, Polymicrogyria, Seizure, Generalized-onset seiz... OMIM:604317
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the corpus callosum, Periventricular ribbonlike heterotopia, Hypsarrhythmia, Delaye... OMIM:618677
Focal Cortical Dysplasia, Type Ii
Focal white matter lesions, Cortical dysplasia, Astrocytosis, Hemimegalencephaly, Cognitive impai... OMIM:607341
Hemimegalencephaly
EEG with polyspike wave complexes, Focal motor seizure, Hemimegalencephaly, Atonic seizure, Myocl... ORPHA:99802
Lissencephaly 3
Hypoplasia of the corpus callosum, Generalized tonic seizure, Polymicrogyria, Seizure, Agyria, Gr... OMIM:611603
Schizophrenia 15
Hyperactivity OMIM:613950
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Hypsarrhythmia, Seizure, Agyria, Infantile spasms, Gray matter heterotopia, Pachygyria, Motor sei... ORPHA:1084
Huntington Disease
Chorea, Choking episodes, Myoclonus, Bradyphrenia, Aggressive behavior, Agitation, Difficulty wal... ORPHA:399
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Hypoplasia of the corpus callosum, Hypsarrhythmia, Progressive microcephaly, Seizure, Microcephal... OMIM:608097
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Dementia, Cerebral cortex with spongiform changes, Hypsarrhythmia, Memory impai... ORPHA:204
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Focal-onset seizure, Falls, Chorea, Seizure, Microcephaly, Inappropriate laughter, Ataxia, Motor ... OMIM:619150
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy, Pachygyria OMIM:606053
Lissencephaly 1
Secondary microcephaly, Seizure, Agyria, Gray matter heterotopia, Abnormal cerebral white matter ... OMIM:607432
Microlissencephaly
Hypoplasia of the corpus callosum, Cerebral dysmyelination, Bilateral tonic-clonic seizure with g... ORPHA:1083
Isolated Focal Cortical Dysplasia
Epileptic spasm, Abnormal cortical gyration, Focal-onset seizure, Nocturnal seizures, Seizure, In... ORPHA:65683
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300425
Symmetrical Thalamic Calcifications
Cerebral calcification, Seizure, Cognitive impairment, Microcephaly, Abnormality of neuronal migr... ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Abnormal temper tantrums, Focal-onset seizure, Cavum septum pe... ORPHA:300573
Lissencephaly, X-Linked, 1
Seizure, Agyria, Gray matter heterotopia, Ataxia, Pachygyria, Agenesis of corpus callosum, Lissen... OMIM:300067
Nodular Neuronal Heterotopia
Seizure, Abnormality of neuronal migration, EEG abnormality ORPHA:2149
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Secondary microcephaly, Dysplastic corpus callosum, Inability to walk, Seizure, Reduced cerebral ... OMIM:620317
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Hypoplasia of the corpus callosum, Inability to walk, Seizure, Cerebral cortical atrophy, Reduced... OMIM:617820
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Seizure, Abnormal social behavior ORPHA:436151
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Focal-onset seizure, Difficulty walking, Inability to walk, Pr... ORPHA:561854
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Seizure, Gray matt... OMIM:604213
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:617787
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Seizure, Compulsive behaviors, Short attention span, Abnormal cerebra... ORPHA:500166
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Secondary microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Se... OMIM:615282
Maternal Hyperthermia-Induced Birth Defects
Seizure, Cognitive impairment, Microcephaly, Abnormality of neuronal migration, EEG abnormality ORPHA:2216
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Inability to walk, Anteverted nares, Seizure... OMIM:618492
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia cysts, Astrocytosis, Myoclonus, Gait disturbance, Gait ataxia, Basal ganglia gliosi... ORPHA:225154
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
N-Acetylaspartate Deficiency
Secondary microcephaly, Broad-based gait, Truncal ataxia, Seizure, Short attention span, Microcep... OMIM:614063
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Depression, Ataxia, Attention deficit hyperactivity disorder, Dysmetria, Ment... OMIM:619191
Periventricular Nodular Heterotopia 6
Hypsarrhythmia, Seizure, Infantile spasms, Focal motor seizure, Periventricular nodular heterotopia OMIM:615544
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Hypsarrhythmia, Polymicrogyria, ... ORPHA:98820
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Polymicrogyria, Seizure, Infantile spasms, Generalized-onset s... OMIM:610031
Landau-Kleffner Syndrome
Hyperactivity, Focal motor seizure, Impulsivity, Gait ataxia, Atypical absence seizure, Aggressiv... ORPHA:98818
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Bilateral tonic-clonic seizure, Status epilepticus, Motor stereotypy, EEG abnormality,... OMIM:617171
Inherited Creutzfeldt-Jakob Disease
Diffuse spongiform leukoencephalopathy, Progressive cerebellar ataxia, Focal T2 hyperintense basa... ORPHA:282166
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Microcephaly, Seizure, Periventricular nodular heterotopia, Inability to walk OMIM:618572
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Cortical dysplasia, Focal aware seizure, Generalized-onset seizure, Bilateral toni... OMIM:610042
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebral atrophy, Hypoplasia of the corpus callosum, Epileptic spasm, Inability to walk, Polymicr... OMIM:614254
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Hyperactivity, Corpus callosum atrophy, Myoclonic seizure, Atonic seizure, A... ORPHA:168491
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Hyperprolinemia, Type I
Hyperactivity, Seizure, Status epilepticus, Ataxia, Motor stereotypy, EEG abnormality, Aggressive... OMIM:239500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Broad-based gait, Hyperactivity, Seizure, Microcep... OMIM:619470
Periventricular Nodular Heterotopia 8
Seizure, Periventricular nodular heterotopia, Reduced cerebral white matter volume OMIM:618185
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Abnormal temper tantrums, Focal-onset seizure, Hyperactivity, EEG w... ORPHA:163681
Developmental And Epileptic Encephalopathy 58
Secondary microcephaly, Inability to walk, Hypsarrhythmia, Seizure, Motor stereotypy, Status epil... OMIM:617830
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cortical dysplasia, Seizure, Small cerebral cortex, Microcepha... OMIM:608716
Developmental And Epileptic Encephalopathy 107
Progressive microcephaly, Seizure, Tonic seizure, Microcephaly, Motor stereotypy, Clonic seizure OMIM:620033
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Broad-based gait, Progressive microcephaly, Recurrent hand fla... OMIM:617862
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy OMIM:300271
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal aware seizure, Bilateral tonic-clonic seizur... OMIM:600512
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Narrow nasal bridge, Anteverted nares, Seizure, Impulsivity, Probst bundles... OMIM:618286
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Seizure, Periventricular nodular heterotopia, Motor ste... OMIM:620065
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Inappropriate behavior, Aggressive behavior,... OMIM:221770
Subependymal Nodular Heterotopia
Acroparesthesia, Focal-onset seizure, Polymicrogyria, Seizure, Focal aware seizure, Gray matter h... ORPHA:101030
Leber Congenital Amaurosis 10
Hyposmia, Seizure OMIM:611755
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Seizure, Generalized-onset... OMIM:619827
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Inability to walk,... OMIM:619317
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Gait ataxia, Sim... OMIM:616540
Cdkl5-Deficiency Disorder
Focal-onset seizure, Difficulty walking, Generalized tonic seizure, Impaired pain sensation, Infa... ORPHA:505652
Lissencephaly 4
Seizure, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Prim... OMIM:614019
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Transient global amnesia, Confusion, Polyphagia,... ORPHA:33543
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Focal-onset seizure, Inability to walk, Progressive microcephaly, Chorea, Compu... OMIM:618917
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Secondary microcephaly, Focal-onset seizure, Nocturnal seizures, Difficulty wal... OMIM:617393
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Megalencephaly, Difficulty walking, Inability to walk, Astrocytosis, Seizure, Wide nasal bridge OMIM:611087
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Hypoplasia of the corpus callosum, Focal-onset seizure, Inability to walk, Chorea, Stereotypical ... OMIM:618760
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Hypsarrhythmia, Seizure, Bilateral tonic-clonic seizure, Motor ste... OMIM:616341
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Decreased motor nerve conduction velocity, Leukoencephalopathy, Impaired vibratory sens... OMIM:613724
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Delayed early-childhood social milestone development, Microlis... OMIM:617090
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Seizure, Microcephaly, Motor stereotypy, Self-injurious behavio... OMIM:618718
Childhood Disintegrative Disorder
Mental deterioration, Seizure, Progressive language deterioration, Reduced social reciprocity, Mo... ORPHA:168782
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormality OMIM:300495
Lissencephaly Due To Tuba1A Mutation
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Focal-onset seizure, Polymicrogyri... ORPHA:171680
Kufor-Rakeb Syndrome
Akinesia, Distal sensory impairment, Dementia, Hyposmia, Seizure, Anosmia, Gait disturbance, Atax... OMIM:606693
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration, Seizure ORPHA:1980
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Seizure, Infantile spasms, Bilateral tonic-clonic sei... ORPHA:250972
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Delayed early-childhood social milestone development, Infantile spasms, Bila... OMIM:619302
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hypsarrhythmia, Athetosis... OMIM:618141
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Gray matter heterotopia, Agenesis of corpus callosum, Glioblastoma multiforme OMIM:619101
Autism, Susceptibility To, 3
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, EEG abnormalit... OMIM:608049
Pontocerebellar Hypoplasia, Type 11
Hypoplasia of the corpus callosum, Limb ataxia, Difficulty walking, Inability to walk, Broad-base... OMIM:617695
Pick Disease Of Brain
Frontotemporal dementia, Gliosis, Polyphagia, Inappropriate laughter, Disinhibition, Motor stereo... OMIM:172700
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Short nose, Globus pallidus calcification, Hyperactivity, Seizure, Bilateral tonic-clonic seizure... OMIM:620292
Severe Intellectual Disability And Progressive Spastic Paraplegia
Hypoplasia of the corpus callosum, Difficulty walking, Seizure, Waddling gait, Abnormal periventr... ORPHA:280763
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Delayed early-childhood social milestone development, Infantile spasms, Bila... OMIM:619301
Atypical Rett Syndrome
Secondary microcephaly, Agitation, Generalized myoclonic seizure, Restrictive behavior, Neonatal ... ORPHA:3095
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Generalized non-motor (absence) seizure, Inability to walk, Ge... ORPHA:411986
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Secondary microcephaly, Epileptic spasm, Inability to walk, Anteverted nares, S... OMIM:618497
Hsd10 Disease
Frontotemporal cerebral atrophy, Focal white matter lesions, Abnormal social behavior, Seizure, S... ORPHA:391417
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Thin corpus callosum, Inability to walk, Hypsarrhythmia, Bilateral tonic-clonic ... OMIM:619877
Bilateral Generalized Polymicrogyria
Hypoplasia of the corpus callosum, Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset s... ORPHA:208447
Superficial Siderosis
Limb ataxia, Partial anosmia, Impaired temperature sensation, Memory impairment, Dysgyria, Impair... ORPHA:247245
Myoclonic-Astatic Epilepsy
Focal-onset seizure, EEG with polyspike wave complexes, Hyperactivity, Microcephaly, Atonic seizu... ORPHA:1942
Young-Onset Parkinson Disease
Agitation, Gait imbalance, Hyposmia, Short attention span, Impulsivity, Cognitive impairment, Res... ORPHA:2828
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Truncal ataxia, Seizure, Unsteady gait, Simplified gyral pattern, Thick corpus... OMIM:618273
Brunet-Wagner Neurodevelopmental Syndrome
Cerebral atrophy, Thin corpus callosum, Myoclonic seizure, Motor stereotypy, Self-injurious behav... OMIM:619690
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplasia of the corpus callosum, Wide nose, Cerebral calcification, Microlissencephaly, Seizure... ORPHA:89844
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Simple febrile seizure, Abnormal c... ORPHA:2524
Pyruvate Dehydrogenase E1-Alpha Deficiency
Microcephaly, Ataxia, Lateral ventricle dilatation, Cerebellar gliosis, Basal ganglia cysts, Poly... ORPHA:79243
Indifference To Pain, Congenital, Autosomal Recessive
Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa... OMIM:243000
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Band Heterotopia
Polymicrogyria, Seizure, Gray matter heterotopia, Agenesis of corpus callosum, Lateral ventricle ... OMIM:600348
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Seizure, Stereotypical hand wringing, Gait disturbance, Microcephaly, Cerebral cor... OMIM:614104
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Epileptic spasm, Thin corpus callosum, Inability to walk, Tongue thrusting, Recurrent hand flappi... OMIM:619580
Lissencephaly 5
Hypoplasia of the corpus callosum, Type II lissencephaly, Seizure, Porencephalic cyst, Gray matte... OMIM:615191
Lissencephaly 6 With Microcephaly
Hypoplasia of the corpus callosum, Polymicrogyria, Microlissencephaly, Anteverted nares, Seizure,... OMIM:616212
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Short nose, Compulsive behaviors, Inflexible adherence to routines, Broad nasal tip, Motor stereo... OMIM:613670
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Ataxia, Inability to walk, Dysplastic corpus callosum OMIM:618276
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Hypoplasia of the corpus callosum, Anteverted nares, Seizure, Recurrent hand flapping, Cerebral c... OMIM:618859
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum... OMIM:619737
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Focal-onset seizure, Inability to walk, Seizure, Astrocy... ORPHA:258
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizur... OMIM:618010
Rett Syndrome, Congenital Variant
Hypoplasia of the corpus callosum, Tongue thrusting, Progressive microcephaly, Seizure, Chorea, A... OMIM:613454
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Seizure, Gray matter heterotopia, Abnormal cerebral white matter... ORPHA:352682
Christianson Syndrome
Abnormality of the nose, Truncal ataxia, Generalized-onset seizure, Gait ataxia, Microcephaly, Ce... ORPHA:85278
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Seizure, Microcephaly, Simplified gyral pattern, Prominent nose, Periventricula... OMIM:616171
Early-Onset Autosomal Dominant Alzheimer Disease
Agitation, Abnormal social behavior, Memory impairment, Dementia, Seizure, Confusion, Semantic de... ORPHA:1020
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Seizure, Microcephaly, Spastic ataxia, Motor stereotypy, Attention deficit hyperactivity disorder OMIM:618906
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Seizure, Gliosis, Cerebral hypoplasia, Microcephaly, Status epilep... ORPHA:168486
Intellectual Developmental Disorder, X-Linked 98
Long nose, Hyperactivity, Atonic seizure, Ataxia, Bruxism, Aggressive behavior, Generalized non-m... OMIM:300912
Cerebral Palsy, Spastic Quadriplegic, 3
Seizure, Gray matter heterotopia, Cognitive impairment, Microcephaly, Dysphagia OMIM:617008
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Spastic gait, Dysplastic corpus callosum OMIM:613162
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypsarrhythmia, Seizure, Infantile spasms, EEG with occipital epileptiform discharges, Bilateral ... OMIM:619428
Brain Small Vessel Disease 2
Focal-onset seizure, Polymicrogyria, Porencephalic cyst, Bilateral tonic-clonic seizure, Subcorti... OMIM:614483
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, Focal-onset seizure, Generalized myoclonic seizure, Bilateral tonic-cloni... ORPHA:352582
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense basal ganglia lesion, Dementia, Seizure, Interictal EEG a... ORPHA:79264
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Interictal epileptiform activity, Anteverted nares, Seizure, Microcep... OMIM:620001
Periventricular Nodular Heterotopia 7
Hypoplasia of the corpus callosum, Short nose, Generalized non-motor (absence) seizure, Hypsarrhy... OMIM:617201
Baker-Gordon Syndrome
Short nose, Inability to walk, Prominent nasal tip, Ataxia, Motor stereotypy, Self-injurious beha... OMIM:618218
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Microcephaly, Prominent nasal bridge, Motor stereotypy, Aggressive be... OMIM:609425
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Seizure, Microcephaly, Broad n... ORPHA:530983
Hereditary Late-Onset Parkinson Disease
Agitation, Akinesia, Hyposmia, Gliosis, Shuffling gait, Impulsivity, Cerebral cortical atrophy, L... ORPHA:411602
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Low hanging columella, Anteverted nares, Seizure, Prominent nasal bri... OMIM:618825
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait, Distal sensory impairment, Positive Romberg sign, Anosmia, Abnormality of visual e... OMIM:601152
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Chorea, Myoclonus, Bilateral tonic-clonic seizure, Abnormal periventricular w... OMIM:619725
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Seizure, Prominent nasal bridge, Attention deficit hyperactivi... OMIM:618974
Apnea, Obstructive Sleep
Focal impaired awareness seizure, Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Seizure, Anosmia OMIM:610628
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Seizure, Microcephaly, Agenesis of corpus callosum, L... OMIM:614833
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Agitation, Seizure, Unsteady gait, Dysphagia, Motor stereotypy, Focal impaired ... OMIM:617435
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Developmental And Epileptic Encephalopathy 66
Focal-onset seizure, Generalized tonic seizure, Broad-based gait, Seizure, Focal tonic seizure, B... OMIM:618067
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Anteverted nares, Prominent nasal tip, Seizure, Compulsive behaviors, Microcephaly... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Hyperactivity, Chorea, Recurrent hand flapping, Bilatera... OMIM:617600
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypoplasia of the corpus callosum, Secondary microcephaly, Gait imbalance, Tongue thrusting, Broa... ORPHA:98794
Xq28 (MECP2) duplication
Hypoplasia of the corpus callosum, Inability to walk, Seizure, Gait ataxia, Microcephaly, Dysphag... DECIPHER:45
2Q23.1 Microdeletion Syndrome
Hyperactivity, Seizure, Polyphagia, Microcephaly, Ataxia, Motor stereotypy, Self-injurious behavi... ORPHA:228402
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Epilepsia partialis continua, Focal myoclonic seizure, Cerebral cortical neurod... OMIM:203700
Bardet-Biedl Syndrome 19
Hypoplasia of the corpus callosum, Hyposmia OMIM:615996
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Head-banging, Seizure, Frequent temper tantrums, Bulbous nose, Microc... OMIM:619103
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Focal-onset seizure, Inability t... OMIM:617802
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dysplastic corpus callosum, Inability to walk, Seizure, Generalized-onset... ORPHA:357058
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Focal-onset seizure, Impaired tactile sensation, Bilateral tonic-clonic seizure with generalized ... OMIM:619092
Periventricular Nodular Heterotopia 1
Hypoplasia of the corpus callosum, Thin corpus callosum, Seizure, Gray matter heterotopia, Abnorm... OMIM:300049
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Short nose, Seizure, Stereotypical... OMIM:619179
Developmental And Epileptic Encephalopathy 64
Hypoplasia of the corpus callosum, Inability to walk, Low insertion of columella, Anteverted nare... OMIM:618004
Shukla-Vernon Syndrome
Wide nasal base, Broad-based gait, Seizure, Impulsivity, Motor stereotypy, Attention deficit hype... OMIM:301029
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Inability to walk, Anteverted nares, Seizure, Abnormal periventricular white matter m... OMIM:613443
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Nocturnal seizures, Interictal epileptiform activity, EEG with focal ... ORPHA:98784
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Seizure, Anosmia OMIM:244200
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Recurrent hand flapping, Diminished ability to concentrate, Febrile seizu... OMIM:615516
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Focal-onset seizure, Inability to walk, Agenesis of the anteri... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 12
Seizure, Gliosis, Gait disturbance, Microcephaly, Abnormality of neuronal migration, Abnormal cer... OMIM:300957
Tetrasomy 18P
Short nose, Seizure, Gait disturbance, Microcephaly, Abnormality of neuronal migration ORPHA:3307
Alg11-Cdg
Cerebral atrophy, Cerebral white matter atrophy, Seizure, Gray matter heterotopia, Microcephaly, ... ORPHA:280071
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hyperactivity, Cerebral calcification, Exaggerated startle response, ... OMIM:617281
Peroxisome Biogenesis Disorder 9B
Ataxia, Anosmia, Total anosmia OMIM:614879
Septo-Optic Dysplasia Spectrum
Polydipsia, Seizure, Anosmia, Septo-optic dysplasia, Agenesis of corpus callosum, Absent septum p... ORPHA:3157
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Infantile spasms, Myoclonic seizure, Abnormality of the anterior commissure... ORPHA:572013
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia, Polyphagia OMIM:617885
Childhood Absence Epilepsy
Typical absence seizure, Abnormal social behavior, Myoclonic absence seizure, Limb myoclonus, Bil... ORPHA:64280
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Focal-onset seizure, Difficulty walking, Cerebral calcification, Seizure, Cognitive impairment, I... OMIM:618476
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Short nose, Prominent nasal tip ORPHA:502430
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Neuronal loss in basal ganglia, Akinesia, Gait imbalance, Memory impairment, Fa... OMIM:601104
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Short nose, Seizure, Cerebral cortical atrophy, Motor stereotypy ORPHA:85277
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Motor stereotypy, Amyotrophic lateral sclerosis OMIM:612069
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:615637
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Cleft ala nasi, Seizure, Gray matter heterotopia, Agenesis of ... OMIM:164180
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Motor stereotypy OMIM:613886
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Low hanging columella, Hyperactivity, Polymicrogyria, Antevert... OMIM:617751
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Hyperactivity, Head-banging, Seizure, Self hugging, Impaired ... OMIM:182290
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Agenesis of corpus callosum, Choanal atresia OMIM:147950
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Anosmia, Microcephaly, Depressed nasal bridge OMIM:302950
Angelman Syndrome Due To A Point Mutation
Secondary microcephaly, Gait imbalance, Tongue thrusting, Broad-based gait, Seizure, Recurrent ha... ORPHA:411511
Chromosome 2Q37 Deletion Syndrome
Wide nose, Hyperactivity, Anteverted nares, Seizure, Stereotypical hand wringing, Skin-picking, B... OMIM:600430
Developmental Delay With Variable Neurologic And Brain Abnormalities
Thin corpus callosum, Wide nose, Anteverted nares, Seizure, Gray matter heterotopia, Microcephaly OMIM:619694
Parkinson Disease 8, Autosomal Dominant
Lewy bodies, Substantia nigra gliosis, Hyposmia, Dementia OMIM:607060
Radio-Tartaglia Syndrome
Gait imbalance, Anteverted nares, Prominent nasal tip, Seizure, Gray matter heterotopia, Impulsiv... OMIM:619312
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Seizure, Recurrent hand flapping, Short attention span, ... ORPHA:449291
5Q14.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Short nose, Frontal cortical atrophy, Anteverted nares, Seizur... ORPHA:228384
Fragile X Syndrome
Hyperactivity, Seizure, Recurrent hand flapping, Periventricular heterotopia, Self-biting OMIM:300624
Bardet-Biedl Syndrome 17
Polydipsia, Anosmia, Hyposmia, Cognitive impairment OMIM:615994
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Impaired proprioception, Impaired temperature sensation, Hyposmia, Pain insensitivity, Impaired v... OMIM:616488
Galloway-Mowat Syndrome 6
Anteverted nares, Seizure, Microcephaly, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Microcephaly, Motor stereotypy, Prominent nose, Aggressive behavior OMIM:615541
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Difficulty walking, Gait imbalance... ORPHA:488627
Neonatal Adrenoleukodystrophy
Anteverted nares, Seizure, Abnormality of neuronal migration, EEG abnormality, Wide nasal bridge ORPHA:44
Houge-Janssens Syndrome 3
Hypoplasia of the corpus callosum, Generalized non-motor (absence) seizure, Focal-onset seizure, ... OMIM:618354
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Hyperactivity, Prominent nasal tip,... OMIM:610883
Glutathionuria
Dysdiadochokinesis, Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Inability to walk, Anteverted nares, Seizure, Chorea, To... OMIM:300260
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor... OMIM:616900
Hydrolethalus
Absent septum pellucidum, Anencephaly, Agenesis of corpus callosum, Abnormality of the sense of s... ORPHA:2189
Cockayne Syndrome Type 3
Difficulty walking, Progressive microcephaly, Cerebral white matter atrophy, Seizure, Astrocytosi... ORPHA:90324
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus callos... ORPHA:2512
Developmental And Epileptic Encephalopathy 100
Thin corpus callosum, Focal-onset seizure, Myoclonic status epilepticus, Chorea, Gait ataxia, Myo... OMIM:619777
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Hypoplasia of the corpus callosum, Long nose, Generalized non-motor (absence) seizure, Generalize... ORPHA:457351
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Bifid nose, Anosmia OMIM:614838
Congenital Muscular Dystrophy Without Intellectual Disability
Tip-toe gait, Difficulty walking, Gray matter heterotopia, Microcephaly, Abnormal cerebral white ... ORPHA:370980
Intellectual Developmental Disorder, Autosomal Dominant 38
Cerebral atrophy, Hair-pulling, Infantile spasms, Microcephaly, Ataxia, Motor stereotypy, Self-in... OMIM:616393
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Epileptic spasm, Focal-onset sei... OMIM:620024
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Seizure, Confusion, Cognitive impairment, Microcephaly, Ataxia, Motor stereotypy, Deli... ORPHA:927
Coffin-Siris Syndrome 6
Periventricular leukomalacia, Seizure, Broad nasal tip, Motor stereotypy, Attention deficit hyper... OMIM:617808
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, Hyperactivity, Seizure, Short attentio... OMIM:620242
Joubert Syndrome 30
Polymicrogyria, Seizure, Gray matter heterotopia, Agenesis of corpus callosum OMIM:617622
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Anteverted nares, Short attention span, Microcephaly, Motor stereotypy, Attention ... OMIM:618342
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Spastic gait, Scissor gait, Truncal ataxia, Microcephaly, Peri... OMIM:619121
Snijders Blok-Campeau Syndrome
Thin corpus callosum, Broad-based gait, Infantile spasms, Prominent nose, Myoclonic seizure, Unst... OMIM:618205
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Anosmia OMIM:266500
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Secondary microcephaly, Low hanging columella, Seizure, Recurrent hand flapping, Compulsive behav... OMIM:300986
Chromosome 15Q11.2 Deletion Syndrome
Memory impairment, Seizure, Compulsive behaviors, Diminished ability to concentrate, Ataxia, Redu... OMIM:615656
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the corpus callosum, Low hanging columella, Polymicrogyria, Anteverted nares, Seizu... ORPHA:500159
Den Hoed-De Boer-Voisin Syndrome
Focal-onset seizure, Microcephaly, Ataxia, Dysphagia, Lateral ventricle dilatation, Myoclonus, EE... OMIM:619229
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Thin corpus callosum, Difficulty walking, Broad-based gait, Generalized-onset seizure, Reduced ce... OMIM:617807
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Gliosis, Bilateral tonic-clonic seizure, Gait disturbance, Microcephaly, Motor stereotyp... ORPHA:457240
Hypomelanosis Of Ito
Microcephaly, Seizure, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Developmental And Epileptic Encephalopathy 2
Generalized myoclonic seizure, Inability to walk, Hypsarrhythmia, Progressive microcephaly, Antev... OMIM:300672
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Seizure, Wide nasal bridge, Motor stereotypy OMIM:620502
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, Abnormality of the sense of smell ORPHA:3201
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal basal ganglia MRI signal intensity, Difficulty walking, Truncal ataxia, Dysdiadochokines... ORPHA:309854
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypoplasia of the corpus callosum, Secondary microcephaly, Hair-pulling, Hyperactivity, Hypsarrhy... ORPHA:447997
Angelman Syndrome
Cerebral dysmyelination, Hyperactivity, Microcephaly, Atypical absence seizure, Atonic seizure, A... ORPHA:72
Rett Syndrome
Agitation, Difficulty walking, Inability to walk, Progressive microcephaly, Seizure, Stereotypica... ORPHA:778
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Cerebral dysmyelination, Distal sensory im... OMIM:609136
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Holoprosencephaly
Absent nares, Hyposmia, Anteverted nares, Seizure, Chorea, Anosmia, Choanal atresia, Depressed na... ORPHA:2162
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Secondary microcephaly, Gait imbalance, Tongue thrusting, Broad-based gait, Bilateral tonic-cloni... ORPHA:98795
Mucolipidosis Iv
Microcephaly, Cerebral dysmyelination, Progressive neurologic deterioration, Dysplastic corpus ca... OMIM:252650
16P13.11 Microdeletion Syndrome
Short nose, Anteverted nares, Generalized-onset seizure, Compulsive behaviors, Microcephaly, Abno... ORPHA:261236
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Seizure, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dep... OMIM:619955
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Chorea, Athetosis, Impulsivity, Bilateral tonic-clonic seizure, Ataxia, Dysp... OMIM:619435
Leber Congenital Amaurosis
Seizure, Abnormality of neuronal migration ORPHA:65
Bilateral Perisylvian Polymicrogyria
Focal-onset seizure, Perisylvian predominant thick cortex pachygyria, EEG with polyspike wave com... ORPHA:98889
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Short nose, Hyperactivity, Seizure, Compulsive behaviors, Ataxia, Motor stereotypy, Bulbous nose,... OMIM:618430
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Dysphagia, La... ORPHA:2388
Amoebiasis Due To Free-Living Amoebae
Hyposmia, Abnormal basal ganglia morphology, Seizure, Confusion, Cerebral edema, Abnormal cerebra... ORPHA:68
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Hypoplasia of the corpus callosum, Generalized non-motor (absence) seizure, Sei... OMIM:615802
Edinburgh Malformation Syndrome
Short nose, Anteverted nares, Seizure, Choanal atresia, Abnormality of neuronal migration ORPHA:1895
Aural Atresia, Congenital
Hyposmia OMIM:607842
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Microcephaly, Motor stereotypy, Attention d... OMIM:620141
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Joubert Syndrome
Polymicrogyria, Anteverted nares, Seizure, Gait disturbance, Abnormality of neuronal migration, P... ORPHA:475
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Seizure, Microcephaly, Broad nasal tip, Motor stereotypy, Self-biting, Aggressive ... ORPHA:3306
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, Narrow nasal bridge, Low hanging colum... OMIM:620073
Kallmann Syndrome
Hyposmia, Seizure, Anosmia, Gait disturbance, Ataxia ORPHA:478
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin corpus callosum, Wide nose, Narrow nasal ridge, Anteverted nares, Seizure, Motor stereotypy,... OMIM:619293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Abnormal periventricular white matter morphology OMIM:608840
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Rett Syndrome
Secondary microcephaly, Truncal ataxia, Seizure, Stereotypical hand wringing, Gait ataxia, Cerebr... OMIM:312750
Smith-Magenis Syndrome
Short nose, Corticospinal tract hypoplasia, Impaired pain sensation, Anteverted nares, Seizure, G... ORPHA:819
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Ataxia, Anosmia OMIM:308700
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Infantile spasms, Impulsivity, Focal impaired awareness seizure, Agenesis of corpus callosum, Att... OMIM:618929
Musk, Inability To Smell
Anosmia OMIM:254150
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Seizure, Compulsive behaviors, Microcephaly, Dysphagia, Motor stereotypy, Pain insens... OMIM:617061
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Congenital Disorder Of Deglycosylation 2
Thin corpus callosum, Polymicrogyria, Gray matter heterotopia, Reduced social reciprocity, Dyspha... OMIM:619775
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
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Anteverted nares, Seizure, Microcephaly, Cerebral cortical atrophy, Abnormality of neuronal migra... ORPHA:2518
Developmental And Speech Delay Due To Sox5 Deficiency
Seizure, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavior, Agg... ORPHA:313892
Galloway-Mowat Syndrome
Seizure, Cognitive impairment, Microcephaly, Abnormality of neuronal migration, Pachygyria, EEG a... ORPHA:2065
Cerebral Creatine Deficiency Syndrome 1
Hypoplasia of the corpus callosum, Broad-based gait, Seizure, Gait disturbance, Microcephaly, Red... OMIM:300352
Refsum Disease
Ataxia, Anosmia ORPHA:773
Johnson Neuroectodermal Syndrome
Microcephaly, Bulbous nose, Anosmia, Choanal atresia ORPHA:2316
Desmosterolosis
Abnormality of the nose, Short nose, Abnormal cortical gyration, Polymicrogyria, Seizure, Microce... ORPHA:35107
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Abnormality of the sense of smell OMIM:229070
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Thanatophoric Dysplasia Type 2
Seizure, Abnormality of neuronal migration, Depressed nasal bridge, Cognitive impairment ORPHA:93274
4Q21 Microdeletion Syndrome
Seizure, Motor stereotypy, Agenesis of corpus callosum, Self-injurious behavior, Depressed nasal ... ORPHA:238750
Periventricular Nodular Heterotopia 9
Hypoplasia of the corpus callosum, Focal-onset seizure, Broad-based gait, Interictal epileptiform... OMIM:618918
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Non-convulsive status epilepticus without coma, Seizure, Lateral vent... ORPHA:544488
Kallmann Syndrome With Spastic Paraplegia
Ataxia, Anosmia OMIM:308750
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia OMIM:210745
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Abnormality of the sense of smell OMIM:616113
Solitary Median Maxillary Central Incisor
Anosmia, Choanal atresia, Microcephaly, Midnasal stenosis, Abnormal nasopharynx morphology, Pyrif... OMIM:147250
Macrocephaly-Developmental Delay Syndrome
Seizure, Motor stereotypy, Self-injurious behavior, EEG with generalized slow activity, Wide nasa... ORPHA:397612
Vici Syndrome
Seizure, Gray matter heterotopia, Depressed nasal tip, Cerebral cortical atrophy, Agenesis of cor... ORPHA:1493
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Focal myoclonic seizure, Abnormal social behavior, Wide nose, Memory ... ORPHA:314647
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Microcephaly, Abnormal cerebral white matter mo... ORPHA:391307
Chromosome 5P13 Duplication Syndrome
Low hanging columella, Seizure, Compulsive behaviors, Agenesis of corpus callosum, Motor stereoty... OMIM:613174
Meningioma
Focal-onset seizure, Difficulty walking, Transient global amnesia, Memory impairment, Seizure, He... ORPHA:2495
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Wide nose, Abnormality of t... ORPHA:284160
Man1B1-Cdg
Underdeveloped nasolabial fold, Wide nose, Broad-based gait, Seizure, Polyphagia, Prominent nose,... ORPHA:397941
Intellectual Developmental Disorder, Autosomal Dominant 34
Secondary microcephaly, Broad-based gait, Anteverted nares, Bilateral tonic-clonic seizure, Motor... OMIM:616351
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Anteverted nares, Seizure, Microcephaly, Prominent nas... OMIM:617796
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Joubert Syndrome With Oculorenal Defect
Anteverted nares, Seizure, Abnormality of neuronal migration, Prominent nasal bridge, Ataxia, Apl... ORPHA:2318
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
9Q21.13 Microdeletion Syndrome
Difficulty walking, Seizure, Gray matter heterotopia, Wide nasal ridge, Aplasia/Hypoplasia of the... ORPHA:531151
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Anteverted nares, Cerebra... ORPHA:435638
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Seizure, Microcephaly, Abnormality of neuronal migrat... ORPHA:899
22Q11.2 Duplication Syndrome
Wide nose, Seizure, Compulsive behaviors, Depressed nasal ridge, Microcephaly, Motor stereotypy, ... ORPHA:1727
Metachromatic Leukodystrophy, Adult Form
Punctate periventricular T2 hyperintense foci, Decreased nerve conduction velocity, Difficulty wa... ORPHA:309271
White-Sutton Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Hypoglycemic seizures, Thin corpus callosum,... OMIM:616364
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Seizure, Microcephaly, Motor stereotypy, Agenesis of corpus callosum, Bulbous nose, D... ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 64
Anteverted nares, Seizure, Microcephaly, Periventricular nodular heterotopia, Attention deficit h... OMIM:619188
Cri-Du-Chat Syndrome
Difficulty walking, Hyperactivity, Short attention span, Microcephaly, Oppositional defiant disor... OMIM:123450
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Phelan-Mcdermid Syndrome
Tongue thrusting, Broad-based gait, Impaired pain sensation, Seizure, Abnormal periventricular wh... OMIM:606232
Even-Plus Syndrome
Dysplastic corpus callosum, Short nose, Bifid nasal tip, Depressed nasal ridge, Agenesis of corpu... OMIM:616854
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Seizure, Gray matter heterotopia, Microcephaly, Diffuse wh... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:618504
Metachromatic Leukodystrophy, Juvenile Form
Punctate periventricular T2 hyperintense foci, Decreased nerve conduction velocity, Progressive p... ORPHA:309263
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Alazami Syndrome
Wide nose, Seizure, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self... ORPHA:319671
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Seizure, Gray matter heterotopia, Microcephaly, Colpocephaly, Simplified gyral pattern, Agenesis ... OMIM:615219
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular leukomalacia, Short nose, Thin corpus callosum, Microcephaly, Colpocephaly, Ataxi... OMIM:619833
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Head-banging, Seizure, Microcephal... OMIM:618569
Hijazi-Reis Syndrome
Seizure, Gait disturbance, Motor stereotypy OMIM:301094
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Bilateral choanal atresia/stenosis... ORPHA:314679
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia OMIM:619755
Chiari Malformation Type Ii
Ataxia, Dysphagia, Agenesis of corpus callosum, Gray matter heterotopia OMIM:207950
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Hypsarrhythmia, Polymicrogyria, Seizure, Gray matter heterotop... ORPHA:75857
48,Xxyy Syndrome
Attention deficit hyperactivity disorder, Seizure, Ataxia, Motor stereotypy ORPHA:10
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Short nose, Cavum septum pellucidum, Seizure, Abnormal corpus callosum ... ORPHA:457279
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Hyperactivity, Seizure, Gait ataxia, Motor stereotypy, Prominent nose, Self-mutilation OMIM:300486
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Miller-Dieker Lissencephaly Syndrome
Hypoplasia of the corpus callosum, Short nose, Epileptic spasm, Cavum septum pellucidum, Antevert... OMIM:247200
Metachromatic Leukodystrophy, Late Infantile Form
Punctate periventricular T2 hyperintense foci, Tip-toe gait, Decreased nerve conduction velocity,... ORPHA:309256
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Coffin-Lowry Syndrome
Wide nose, Anteverted nares, Seizure, Thick nasal alae, Gait disturbance, Microcephaly, Cerebral ... ORPHA:192
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Self-injurious behavior, Polymicrogyria, Cor... ORPHA:468631
White-Sutton Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Seizure, Subcortical cerebral atrophy, Compulsi... ORPHA:468678
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Coffin-Siris Syndrome 7
Convex nasal ridge, Wide nose, Hyperactivity, Anteverted nares, Thick nasal alae, Compulsive beha... OMIM:618027
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, Anteverted nares, Microcepha... OMIM:614105
8P11.2 Deletion Syndrome
Microcephaly, Seizure, Anosmia, Depressed nasal bridge ORPHA:251066
Proximal 16P11.2 Microdeletion Syndrome
Seizure, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactivity disorder, ... ORPHA:261197
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hypoplasia of the corpus callosum, Difficulty walking, Hyposmia, Microcephaly, Motor stereotypy OMIM:618653
Neurocutaneous Melanocytosis
Seizure, Abnormality of neuronal migration, EEG abnormality ORPHA:2481
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Seizure, Abnormality of neuronal migration, Cognitive impairment ORPHA:2063
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cerebral atrophy, Hypoplasia of the corpus callosum, Anteverted nares, Infantile spasms, Gray mat... OMIM:618797
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:2772
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Secondary microcephaly, Short nose, Seizure, Compulsive behaviors, Gait ataxia, Motor stereotypy,... ORPHA:476126
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Short nose, Underdeveloped nasolabial fold, Abnormal social behavior, N... ORPHA:177907
Pseudo-Torch Syndrome 2
Cerebral calcification, Polymicrogyria, Seizure, Gray matter heterotopia, Microcephaly, Lateral v... OMIM:617397
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Thanatophoric Dysplasia
Seizure, Gray matter heterotopia, Depressed nasal bridge ORPHA:2655
Acalvaria
Abnormality of neuronal migration ORPHA:945
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Microcephaly, Motor stereotypy, Overfriendliness OMIM:616579
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Infantile spasms, Bilateral tonic-clonic seizure, Decreased ... OMIM:618733
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Abnormal basal ganglia morphology, Polymicrogyria, Seizure, Abnormality o... ORPHA:157
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Short nose, Low insertion of columella, Anteverted nares, Underdeveloped nasal alae, Seizure, Imp... OMIM:619005
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Anteverted nares, Prominent nasal tip, Absent septum pellucidum, Attention deficit hyperactivity ... OMIM:618870
Gorlin Syndrome
Cerebral calcification, Calcification of falx cerebri, Wide nasal bridge, Abnormality of the sens... ORPHA:377
2Q37 Microdeletion Syndrome
Anteverted nares, Underdeveloped nasal alae, Seizure, Compulsive behaviors, Microcephaly, Broad c... ORPHA:1001
Megalocornea-Intellectual Disability Syndrome
Seizure, Microcephaly, Ataxia, Motor stereotypy, EEG abnormality, Wide nasal bridge ORPHA:2479
Wilson Disease
Decreased nerve conduction velocity, Hyposmia, Seizure, Dysphagia, Dementia, Hypoesthesia OMIM:277900
Moebius Syndrome
Dysphagia, Abnormality of the sense of smell ORPHA:570
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Thick nasal alae, Broad columella, Wide n... ORPHA:557003
Poretti-Boltshauser Syndrome
Gray matter heterotopia, Abnormal periventricular white matter morphology OMIM:615960
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Polymicrogyria, Intracerebral periventricular calcifications, Seizure, Nasal... OMIM:608836
Joubert Syndrome With Hepatic Defect
Anteverted nares, Seizure, Gait disturbance, Abnormality of neuronal migration, Prominent nasal b... ORPHA:1454
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Short nose, EEG with spike-wave complexes, Chorea, EEG with focal sharp waves, Pro... ORPHA:522077
Alkuraya-Kucinskas Syndrome
Short nose, Anteverted nares, Seizure, Gray matter heterotopia, Lissencephaly, Aplasia/Hypoplasia... OMIM:617822
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Bulbous nose, Pachygyria ORPHA:2328
Galloway-Mowat Syndrome 1
Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Narrow nasal ridge, ... OMIM:251300
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Anteverted nares, Seizure, Wide nasal bridge OMIM:618810
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis, Seizure, Gray matter heterotopia, Dysphagia, Depressed nasal bridge ORPHA:26791
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Simple febrile seizure, Seizure, Gait disturbance, Microcephal... ORPHA:464311
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Focal-onset seizure, Hyperactivity, Impulsivity, Cognitive impairment, Microcephaly, Ataxia, EEG ... OMIM:619475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Polymicrogyria, Type II lissencephaly, Agyria, Gray matter het... OMIM:614643
Bainbridge-Ropers Syndrome
Hypoplasia of the corpus callosum, Short nose, Inability to walk, Anteverted nares, Seizure, Recu... OMIM:615485
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Motor stereotypy ORPHA:529965
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Seizure, Gray matter heterotopia, Wide nasal bridge, Depressed nasal bridge OMIM:614887
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Short nose, Hair-pulling, Nail-biting, Broad-based gait,... OMIM:620330
Bardet-Biedl Syndrome
Seizure, Short attention span, Cognitive impairment, Rhinitis, Prominent nasal bridge, Ataxia, Ab... ORPHA:110
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Impulsivity, Lateral ventricle dilatation, Motor stereotypy, S... OMIM:618914
Orofaciodigital Syndrome Type 6
Seizure, Gait disturbance, Abnormality of neuronal migration, Prominent nasal bridge, Broad nasal... ORPHA:2754
Nmda Receptor Encephalitis
Agitation, Focal-onset seizure, EEG with temporal sharp slow waves, Memory impairment, Chorea, Se... ORPHA:217253
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormal basal ganglia morphology, Polymicrogyria, Intracerebral perivent... ORPHA:228308
Periventricular Nodular Heterotopia
Periventricular heterotopia, Focal-onset seizure ORPHA:98892
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Hypoplasia of the corpus callosum, Secondary microcephaly, Bilateral tonic-clonic seizure, Cerebr... ORPHA:496641
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Generalized non-motor (absence) seizure, Broad-based gait, Ant... ORPHA:513456
Niemann-Pick Disease Type C
Focal-onset seizure, Chorea, Cognitive impairment, Ataxia, Dysphagia, Myoclonus, Aggressive behav... ORPHA:646
7Q11.23 Microduplication Syndrome
Abnormal columella morphology, Hyperactivity, Seizure, Polyphagia, Collectionism, Simplified gyra... ORPHA:96121
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Seizure, Short attention span, Frequent temper tantrums, Motor stereotypy, Lateral ... OMIM:619575
Niemann-Pick Disease, Type C2
Dementia, Seizure, Ataxia, Neurofibrillary tangles, Motor stereotypy, Dysphagia OMIM:607625
Congenital Disorder Of Glycosylation, Type Iia
Low hanging columella, Seizure, Stereotypical hand wringing, Microcephaly, Prominent nasal bridge... OMIM:212066
Pilarowski-Bjornsson Syndrome
Seizure, Motor stereotypy OMIM:617682
Koolen-De Vries Syndrome
Hypoplasia of the corpus callosum, Hyperactivity, Pear-shaped nose, Seizure, Gray matter heteroto... OMIM:610443
Wiedemann-Steiner Syndrome
Short nose, Hyperactivity, Seizure, Abnormal corpus callosum morphology, Short attention span, Mi... ORPHA:319182
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Short nose, Seizure, Impulsivity, Excessive shyness, Microcephaly, Motor stereo... OMIM:301030
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Thin corpus callosum, Low hanging columella, Hyperactivity, Narrow nasal ridge, Compulsive behavi... OMIM:619512
Orofaciodigital Syndrome Xvi
Inability to walk, Ataxia, Gray matter heterotopia, Depressed nasal bridge OMIM:617563
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Prominent nasal bridge, Dysplastic corpus callosum OMIM:604273
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Seizure, Dysplastic corpus callosum OMIM:619423
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Seizure, Compulsive behaviors, Depressed nasal tip, Motor stereotypy, Attention deficit hyperacti... OMIM:620494
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Holoprosencephaly 14
Proboscis, Anteverted nares, Gray matter heterotopia, Bilateral tonic-clonic seizure, Microcephal... OMIM:619895
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Seizure, Gray matter heterotopia, Broad nasal tip, Bulbous nose, Wide nasal bridge OMIM:620475
Kleefstra Syndrome 1
Anteverted nares, Seizure, Compulsive behaviors, Microcephaly, Motor stereotypy, Aggressive behavior OMIM:610253
Pitt-Hopkins Syndrome
Secondary microcephaly, Hypoplasia of the corpus callosum, Flared nostrils, Seizure, Gait ataxia,... OMIM:610954
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Anteverted nares, Seizure, Gray matter heterotopia, Microcepha... OMIM:605039
Kleefstra Syndrome
Short nose, Anteverted nares, Seizure, Microcephaly, Cerebral cortical atrophy, Agenesis of corpu... ORPHA:261494
Occipital Horn Syndrome
Cerebral calcification, Dysphagia, Abnormality of the sense of smell ORPHA:198
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Impaired pain sensation, Seizure, Agenesis of corpus callosum, Bruxi... ORPHA:48652
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Short nose, Polymicrogyria, Gray matter heter... OMIM:618820
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Anteverted nares, Seizure, Gray matter heterotopia, Cerebral cortical atrophy, Un... OMIM:214100
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Anteverted nares, Seizure, Colpocephaly, Dysphagia, Periventri... ORPHA:261250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Impaired pain sensation, Seizure, Gray matter heterotopia, Mic... ORPHA:453499
Tuberous Sclerosis Complex
Epileptic spasm, Focal-onset seizure, Abnormal social behavior, Hyperactivity, Cortical dysplasia... ORPHA:805
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Hippocampal atrophy, Anteverted nares, Flared nostrils, Seizure,... OMIM:614756
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Seizure, Agenesis of corpus callos... OMIM:614924
Helsmoortel-Van Der Aa Syndrome
Short nose, Typical absence seizure, Hyperactivity, Anteverted nares, Seizure, Gliosis, Polyphagi... OMIM:615873
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Polymicrogyria, Depressed nasal ridge, Microc... ORPHA:2671
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hyposmia, Absent nares, Single naris, Anosmia ORPHA:2250
Acromelic Frontonasal Dysostosis
Hypoplasia of the corpus callosum, Midline defect of the nose, Cavum septum pellucidum, Seizure, ... OMIM:603671
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Depressed nasal ridge, Abnormality of neuronal migrat... ORPHA:2211
Nijmegen Breakage Syndrome
Mental deterioration, Prominent nose, Microcephaly, Glioma, Abnormality of neuronal migration, Pr... ORPHA:647
Van Maldergem Syndrome 1
Hypoplasia of the corpus callosum, Gray matter heterotopia, Simplified gyral pattern, Pachygyria,... OMIM:601390
Thanatophoric Dysplasia Type 1
Seizure, Gray matter heterotopia, Depressed nasal bridge ORPHA:1860
Charge Syndrome
Anosmia, Compulsive behaviors, Choanal atresia, Microcephaly, Dysphagia, Attention deficit hypera... ORPHA:138
Opitz-Kaveggia Syndrome
Seizure, Gray matter heterotopia, Choanal atresia, Prominent nose, Attention deficit hyperactivit... OMIM:305450
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Seizure, EEG with central focal spikes, EEG with occipital focal ... OMIM:301066
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Decreased nerve conduction velocity, Wide nose, Hyperactivity, Seizure,... ORPHA:580
Mismatch Repair Cancer Syndrome 1
Pleomorphic xanthoastrocytoma, Ependymoma, Gray matter heterotopia, Astrocytoma, Agenesis of corp... OMIM:276300
3C Syndrome
Short nose, Abnormality of neuronal migration, Wide nasal bridge, Depressed nasal bridge ORPHA:7
Rauch-Steindl Syndrome
Hyperactivity, Microcephaly, Motor stereotypy, Wide nasal bridge, Depressed nasal bridge, Aggress... OMIM:619695
Aicardi Syndrome
Epileptic spasm, Cavum septum pellucidum, Polymicrogyria, Anteverted nares, Seizure, Infantile sp... OMIM:304050
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Anteverted nares, Seizure, Truncal ataxia, Gait ataxia, Microcephaly, Broad nas... OMIM:617330
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Deviated nasal septum, Narrow nasal bridge, Seizure, Impulsivity, Ata... OMIM:300967
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Typical absence seizure, Inability to walk, Impaired pain sens... ORPHA:453504
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Hypoplasia of the corpus callosum, Short nose, Focal-onset seizure, Hypsarrhythmia, Anteverted na... OMIM:301044
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypoplasia of the corpus callosum, Typical absence seizure, Inability to walk, Impaired pain sens... ORPHA:352665