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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 Lateral Orientation

11 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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
Focal cortical dysplasia, Status epilepticus, Impaired social interactions, Bilateral tonic-cloni... OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
Stereotypical hand wringing, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure... ORPHA:163681

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Alzheimer Disease 10
Dementia, Memory impairment OMIM:609636
Familial Alzheimer-Like Prion Disease
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... ORPHA:280397
Schizophrenia 19
Cognitive impairment OMIM:617629
Foix-Chavany-Marie Syndrome
Cognitive impairment, Gait disturbance ORPHA:2048
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Restlessness, Astrocytosis, Disinhibition, Collectionism, Bilateral tonic-cloni... ORPHA:275864
Sub-Cortical Nodular Heterotopia
Polymicrogyria, EEG with focal spikes, Abnormal basal ganglia morphology, Subcortical heterotopia... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Thin corpus callosum, Cortical dysplasia, Gray matter heterotopia, Seizure, Pachygyria, Microceph... OMIM:615411
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ataxia, Attention deficit hyperactivity disorder, Seizure, M... OMIM:618709
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Infantile spasms, Hypsarrhythmia, Myoclonic seizure, Generalized-onset seizure, Thick cerebral co... OMIM:618677
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Dementia, Progressive cerebellar ataxia, Memory impairment ORPHA:85292
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired social interactions, Unsteady gait, EEG abnormality, Bilateral tonic-clonic seizure, Sei... OMIM:608636
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Focal cortical dysplasia type II, Focal white matter lesions, Astrocytosis, C... OMIM:607341
Lissencephaly 3
Polymicrogyria, Ataxia, Bilateral tonic-clonic seizure, Gray matter heterotopia, Seizure, Pachygy... OMIM:611603
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Infantile spasms, Hypsarrhythmia, EEG with changes in voltage, Gray matter heterotopia, Seizure, ... ORPHA:1084
Schizophrenia 15
Hyperactivity OMIM:613950
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Hypsarrhythmia, Periventricular nodular heterotopia, Progressive microcephaly, Seizure, Microceph... OMIM:608097
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Polymicrogyria, Hyperactivity, Schizencephaly, Generalized-onset seizure, EEG abnormality, Simpli... OMIM:604317
Hemimegalencephaly
Focal cortical dysplasia, Polymicrogyria, Status epilepticus, Hemimegalencephaly, EEG with focal ... ORPHA:99802
Huntington Disease
Inability to walk, Agitation, Mental deterioration, Gait imbalance, Bradyphrenia, Polyphagia, Gai... ORPHA:399
Sporadic Creutzfeldt-Jakob Disease
Hypsarrhythmia, Cerebral atrophy, Ataxia, Astrocytosis, Cognitive impairment, Dementia, Memory im... ORPHA:204
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms, Seizure, Impaired ability to form peer relationships, EEG abnorma... OMIM:607373
Autism
Abnormal repetitive mannerisms, Seizure, Impaired ability to form peer relationships, EEG abnorma... OMIM:209850
Lissencephaly 1
Secondary microcephaly, Gray matter heterotopia, Seizure, Pachygyria, Abnormal cerebral white mat... OMIM:607432
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Restlessness, Astrocytosis, Disinhibition, Frontotemporal dementia, Memory impa... OMIM:600795
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Inability to walk, Impaired social interactions, Pachygyria OMIM:606053
Microlissencephaly
Bilateral tonic-clonic seizure with generalized onset, Polymicrogyria, Neuronal loss in the cereb... ORPHA:1083
Symmetrical Thalamic Calcifications
Ataxia, EEG abnormality, Cognitive impairment, Cerebral calcification, Seizure, Microcephaly, Abn... ORPHA:1314
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Seizure, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus c... OMIM:300067
Nodular Neuronal Heterotopia
EEG abnormality, Seizure, Abnormality of neuronal migration ORPHA:2149
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Focal-onset seizure, Focal motor status epilepticus, Ataxia, Falls, EEG abnormality, Inappropriat... OMIM:619150
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Focal-onset seizure, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Chudley-Mccullough Syndrome
Polymicrogyria, Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Gray matter ... OMIM:604213
Foxg1 Syndrome
Infantile spasms, Status epilepticus, Impaired social interactions, Focal-onset seizure, Progress... ORPHA:561854
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Infantile spasms, Bilateral tonic-clonic seizure with focal onset, Fo... ORPHA:65683
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Seizure, Hyperactivity, Abnormal social behavior ORPHA:436151
Periventricular Nodular Heterotopia 6
Infantile spasms, Hypsarrhythmia, Periventricular nodular heterotopia, Focal motor seizure, Seizure OMIM:615544
Familial Infantile Bilateral Striatal Necrosis
Gait disturbance, Ataxia, Basal ganglia cysts, Astrocytosis, Loss of ambulation, Atrophy/Degenera... ORPHA:225154
Familial Focal Epilepsy With Variable Foci
Infantile spasms, Paresthesia, Polymicrogyria, Focal-onset seizure, Hemimegalencephaly, Focal cor... ORPHA:98820
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Infantile spasms, Polymicrogyria, Partial agenesis of the corpus callosum, Generalized-onset seiz... OMIM:610031
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder OMIM:617787
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Impaired social interactions, Inability to walk, EEG abnormality, Seizure, Abnormal repetitive ma... OMIM:617820
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Seizure, Periventricular nodular heterotopia, Inability to walk, Microcephaly OMIM:618572
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral... OMIM:614039
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Mental deteriorati... OMIM:619191
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Seizure, Abnormal cerebral... ORPHA:500166
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Polymicrogyria, Secondary microcephaly, Clonic seizure, Seizure, Microcephaly, Cortical dysplasia... OMIM:615282
Periventricular Nodular Heterotopia 8
Seizure, Periventricular nodular heterotopia, Reduced cerebral white matter volume OMIM:618185
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms, Seizure, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms, Seizure, EEG abnormality OMIM:300425
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Developmental And Epileptic Encephalopathy 58
Status epilepticus, Hypsarrhythmia, Inability to walk, Secondary microcephaly, Seizure, Abnormal ... OMIM:617830
Inherited Creutzfeldt-Jakob Disease
Focal T2 hyperintense basal ganglia lesion, Progressive cerebellar ataxia, Astrocytosis, EEG with... ORPHA:282166
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Polymicrogyria, Inability to walk, Cerebral atrophy, Myoclonic seizure, Bruxism, EEG abnormality,... OMIM:614254
Maternal Hyperthermia-Induced Birth Defects
EEG abnormality, Cognitive impairment, Seizure, Microcephaly, Abnormality of neuronal migration ORPHA:2216
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Inability to walk, Cerebral atrophy, Simplified gyral pattern, Absent septum pellucidum, Attentio... OMIM:618492
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Seizure, Hyperactivity OMIM:300271
Pitt-Hopkins-Like Syndrome 1
Focal cortical dysplasia, Status epilepticus, Impaired social interactions, Bilateral tonic-cloni... OMIM:610042
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Progressive microcephaly, Bilateral tonic-clonic seizure, Dysphagia, Gait ataxia, Abnormal repeti... OMIM:617862
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Status epilepticus, Abnormal eating behavior, Focal-onset seizure, Hy... ORPHA:101039
Epilepsy, Familial Temporal Lobe, 1
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole, Focal sensory seizure... OMIM:600512
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Status epilepticus, Agitation, EEG abnormality, Bilateral tonic-clonic seizure, Abnormal repetiti... OMIM:617171
Subependymal Nodular Heterotopia
EEG with temporal focal spike waves, Focal cortical dysplasia, Polymicrogyria, Limb myoclonus, Fo... ORPHA:101030
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Hyperactivity, Simplified gyral pattern, Seizure, ... OMIM:619470
Hyperprolinemia, Type I
Status epilepticus, Hyperactivity, Ataxia, EEG abnormality, Seizure, Abnormal repetitive mannerisms OMIM:239500
Leber Congenital Amaurosis 10
Seizure, Hyposmia OMIM:611755
N-Acetylaspartate Deficiency
Unsteady gait, Secondary microcephaly, Broad-based gait, Seizure, Microcephaly, Abnormal repetiti... OMIM:614063
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Primary microcephaly, Overfriendliness, Dysplastic corpus callosum OMIM:618010
Late Infantile Neuronal Ceroid Lipofuscinosis
Focal-onset seizure, Inability to walk, Bilateral tonic-clonic seizure, Generalized myoclonic sei... ORPHA:168491
Landau-Kleffner Syndrome
Steppage gait, Focal impaired awareness seizure, Focal motor seizure, Bilateral tonic-clonic seiz... ORPHA:98818
Developmental And Epileptic Encephalopathy 107
Progressive microcephaly, Clonic seizure, Tonic seizure, Seizure, Microcephaly, Abnormal repetiti... OMIM:620033
Microcephaly 5, Primary, Autosomal Recessive
Simplified gyral pattern, Attention deficit hyperactivity disorder, Seizure, Small cerebral corte... OMIM:608716
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Simplified gyral pattern, Bilateral tonic-clonic seizure, Generalized myoclon... OMIM:616540
Lissencephaly 4
Colpocephaly, Primary microcephaly, Simplified gyral pattern, Seizure, Wide nasal bridge, Lissenc... OMIM:614019
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Focal-onset seizure, Inability to walk, Ataxia, Myoclonic seizure, Foc... OMIM:619317
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis, Seizure, Megalencephaly, Wide nasal bridge OMIM:611087
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Hyposmia, Leukoencephalo... OMIM:613724
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Seizure, Periventricular nodular heterotopia, Attention deficit h... OMIM:620065
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Broad nasal tip, Focal-onset seizure, Cerebral atrophy, Secondary microcephaly,... OMIM:617393
Mismatch Repair Cancer Syndrome 4
Glioblastoma multiforme, Agenesis of corpus callosum, Astrocytoma, Gray matter heterotopia OMIM:619101
Microcephaly 17, Primary, Autosomal Recessive
Primary microcephaly, Microlissencephaly, Simplified gyral pattern, Seizure, Bulbous nose, Delaye... OMIM:617090
Cdkl5-Deficiency Disorder
Impaired pain sensation, Infantile spasms, Stereotypical hand wringing, Focal-onset seizure, Gait... ORPHA:505652
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms, Impaired ability to form peer relationships OMIM:608631
Lissencephaly Due To Tuba1A Mutation
Infantile spasms, Polymicrogyria, Focal-onset seizure, Hypoplasia of the corpus callosum, Partial... ORPHA:171680
Bilateral Striopallidodentate Calcinosis
Seizure, Cerebral calcification, Microcephaly, Abnormality of neuronal migration ORPHA:1980
Progressive Non-Fluent Aphasia
Restlessness, Astrocytosis, Temporal cortical atrophy, Lewy bodies, Neurofibrillary tangles, Fron... ORPHA:100070
Polymicrogyria With Optic Nerve Hypoplasia
Infantile spasms, Polymicrogyria, Colpocephaly, Bilateral tonic-clonic seizure, Dysplastic corpus... ORPHA:250972
Pontocerebellar Hypoplasia, Type 15
Infantile spasms, Focal-onset seizure, Partial agenesis of the corpus callosum, Myoclonic seizure... OMIM:619302
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Progressive microcephaly, Cerebral atrophy, Clonic seizure, Inability to wal... OMIM:618917
Cntnap2-Related Developmental And Epileptic Encephalopathy
Stereotypical hand wringing, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure... ORPHA:163681
Pontocerebellar Hypoplasia, Type 14
Infantile spasms, Focal-onset seizure, Myoclonic seizure, Simplified gyral pattern, Bilateral ton... OMIM:619301
Developmental And Epileptic Encephalopathy 67
Hypsarrhythmia, Gait disturbance, Focal hemiclonic seizure, EEG abnormality, Tonic seizure, Bilat... OMIM:618141
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Bruxism, EEG abnormality, Paroxysmal bursts of laughter, Seizur... OMIM:618718
Pick Disease Of Brain
Polyphagia, Disinhibition, Inappropriate laughter, Frontotemporal dementia, Gliosis, Abnormal rep... OMIM:172700
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure, Abnormal ... OMIM:616341
Severe Intellectual Disability And Progressive Spastic Paraplegia
Shyness, Difficulty walking, Seizure, Microcephaly, Waddling gait, Bulbous nose, Abnormal repetit... ORPHA:280763
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Broad nasal tip, Hypsarrhythmia, Occipital cortical atrophy, Inability to walk,... ORPHA:411986
Hereditary Geniospasm
EEG abnormality, Chin myoclonus, Abnormal social behavior ORPHA:53372
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Thin corpus callosum, Inability to walk, Prominent nasal bridge, Myoclonic seizur... OMIM:619877
Kufor-Rakeb Syndrome
Distal sensory impairment, Gait disturbance, Ataxia, Hyposmia, Dementia, Dysphagia, Seizure, Myoc... OMIM:606693
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal ... OMIM:619428
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Unsteady gait, Simplified gyral pattern, Seizure, Thick corpus callosum, Trunc... OMIM:618273
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, EEG with generalized sharp slow waves, Bilateral tonic-clonic seizure, Gliosis... ORPHA:79243
Superficial Siderosis
Impaired pain sensation, Paresthesia, Limb ataxia, Abnormal corpus callosum morphology, Unsteady ... ORPHA:247245
Childhood Disintegrative Disorder
Impaired social interactions, Motor deterioration, Progressive language deterioration, Dementia, ... ORPHA:168782
Indifference To Pain, Congenital, Autosomal Recessive
Paresthesia, Impaired proprioception, Hyposmia, Pain insensitivity, Abnormal nerve conduction vel... OMIM:243000
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Primary microcephaly, Microlissencephaly, Cerebral calcification, Wide n... ORPHA:89844
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Attention deficit hyperactivity disor... OMIM:617695
Lissencephaly 5
Type II lissencephaly, Porencephalic cyst, Gray matter heterotopia, Seizure, Abnormal cerebral wh... OMIM:615191
Bilateral Generalized Polymicrogyria
Infantile spasms, Status epilepticus, Eyelid myoclonus, Focal-onset seizure, Diffuse white matter... ORPHA:208447
Lissencephaly 6 With Microcephaly
Polymicrogyria, Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pat... OMIM:616212
Combined Oxidative Phosphorylation Deficiency 54
Periventricular white matter hyperintensities, Periventricular nodular heterotopia, Hypoesthesia,... OMIM:619737
Band Heterotopia
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Seizure, Agenesis of corpu... OMIM:600348
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Microcephaly, Ataxia, Dysplastic corpus callosum OMIM:618276
Pontocerebellar Hypoplasia Type 2
Impaired oropharyngeal swallow response, Abnormal cortical gyration, Bilateral tonic-clonic seizu... ORPHA:2524
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Seizure, Dysgyria, Abnormal cerebral white matter... ORPHA:352682
Intellectual Developmental Disorder, Autosomal Dominant 7
Gait disturbance, Hyperactivity, Ataxia, Inappropriate laughter, Febrile seizure (within the age ... OMIM:614104
Hsd10 Disease
Gait disturbance, Ataxia, Abnormal social behavior, Dysphagia, Seizure, Microcephaly, Myoclonus, ... ORPHA:391417
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Partial agenesis of the corpus callosum, Simplified gyral pattern, Seizure, Mic... OMIM:616171
Congenital Neuronal Ceroid Lipofuscinosis
Status epilepticus, Neuronal loss in the cerebral cortex, Myoclonic seizure, Seizure, Gliosis, Pa... ORPHA:168486
Christianson Syndrome
Generalized-onset seizure, Inappropriate laughter, Dysphagia, Gait ataxia, Microcephaly, Aplasia/... ORPHA:85278
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Brain Small Vessel Disease 2
Polymicrogyria, Focal-onset seizure, Schizencephaly, Bilateral tonic-clonic seizure, Porencephali... OMIM:614483
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Limb myoclonus, Periventricular nodular he... ORPHA:352582
Rett Syndrome, Congenital Variant
Impaired social interactions, Progressive microcephaly, Bruxism, EEG abnormality, Simplified gyra... OMIM:613454
Brunet-Wagner Neurodevelopmental Syndrome
Thin corpus callosum, Cerebral atrophy, Myoclonic seizure, Wide nasal bridge, Abnormal repetitive... OMIM:619690
Periventricular Nodular Heterotopia 7
Infantile spasms, Polymicrogyria, Periventricular nodular heterotopia, Hypsarrhythmia, Ataxia, Sh... OMIM:617201
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Dysplastic corpus callosum, Dysphagia, Seizure, Anteverted nares, Micro... OMIM:620001
Juvenile Neuronal Ceroid Lipofuscinosis
Myoclonic spasms, Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Cognitive impairm... ORPHA:79264
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Inability to walk, Astrocytosis, Cognitive impairment, Cerebral edema, Dysph... ORPHA:258
Cerebral Palsy, Spastic Quadriplegic, 3
Cognitive impairment, Gray matter heterotopia, Dysphagia, Seizure, Microcephaly OMIM:617008
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, EEG abnormality, Dysplastic corpus callosum, Seizure, Microcephaly, Lissencephaly... OMIM:614833
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular cysts, Seizure, Corticospinal tract hypoplasia, Pachygyria, Short corpus ... ORPHA:255138
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Hyperactivity DECIPHER:8
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Young-Onset Parkinson Disease
Impaired social interactions, Agitation, Cognitive impairment, Hyposmia, Dementia, Frontal lobe d... ORPHA:2828
Autism, Susceptibility To, X-Linked 2
Abnormal repetitive mannerisms, Seizure, EEG abnormality OMIM:300495
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Thin corpus callosum, Inability to walk, Ataxia, Clonic seizure, Myoclonic seizure, Focal impaire... OMIM:619580
Autism, Susceptibility To, 3
Abnormal repetitive mannerisms, Seizure, Impaired ability to form peer relationships, EEG abnorma... OMIM:608049
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Bruxism, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Atoni... OMIM:300912
Apnea, Obstructive Sleep
Anosmia, Focal impaired awareness seizure OMIM:107650
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Seizure, Hyposmia, Anosmia OMIM:610628
Baker-Gordon Syndrome
Inability to walk, Ataxia, EEG abnormality, Short nose, Abnormal repetitive mannerisms, Choreoath... OMIM:618218
Lamb-Shaffer Syndrome
Broad nasal tip, Hyperactivity, Ataxia, Abnormal social behavior, Seizure, Microcephaly, Abnormal... ORPHA:530983
Hereditary Late-Onset Parkinson Disease
Agitation, Lewy bodies, Hyposmia, Dementia, Dysphagia, Mental deterioration, Gliosis, Akinesia, C... ORPHA:411602
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Unsteady gait, Agitation, Bruxism, Focal impaired awareness seizure, Dysphagia,... OMIM:617435
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Distal sensory impairment, Steppage gait, Decreased motor nerve conduction velocity, Positive Rom... OMIM:601152
Congenital Muscular Dystrophy Without Intellectual Disability
Difficulty walking, Tip-toe gait, Gray matter heterotopia, Abnormal cerebral white matter morphol... ORPHA:370980
Developmental And Epileptic Encephalopathy 66
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal c... OMIM:618067
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Status epilepticus, Focal-onset seizure, Progressive microcephaly, Cerebral atrophy, Inability to... OMIM:617802
Chromosome 3Q29 Deletion Syndrome
Prominent nasal bridge, Hyperactivity, Gait ataxia, Microcephaly, Abnormal repetitive mannerisms OMIM:609425
Periventricular Nodular Heterotopia 1
Thin corpus callosum, Gray matter heterotopia, Seizure, Hypoplasia of the corpus callosum, Abnorm... OMIM:300049
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Ataxia, Agitation, Disinhibition, Neurofibrillary tangles, Dementia, Abnormal ... ORPHA:1020
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Seizure, Microcephaly, Abnormal repetit... OMIM:618906
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Inability to walk, Short nose, Lateral ventricle dilatation, Anteverted n... OMIM:613443
Tetrasomy 18P
Gait disturbance, Short nose, Seizure, Microcephaly, Abnormality of neuronal migration ORPHA:3307
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Seizure, Hyposmia, Anosmia OMIM:244200
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Anteverted nares, Repetitive compulsive ... ORPHA:352490
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Ataxia, Myoclonic sei... OMIM:619092
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia, Total anosmia OMIM:614879
Autosomal Recessive Cutis Laxa Type 2A
Primary microcephaly, Inability to walk, Ataxia, Secondary microcephaly, Generalized-onset seizur... ORPHA:357058
Alg11-Cdg
Impaired social interactions, Cerebral atrophy, Ataxia, Gray matter heterotopia, Seizure, Abnorma... ORPHA:280071
Xq28 (MECP2) duplication
Inability to walk, Dysphagia, Gait ataxia, Seizure, Microcephaly, Abnormal repetitive mannerisms,... DECIPHER:45
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Simplified gyral pattern, Febrile seizure (within the age range of 3 mont... OMIM:619179
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Seizure, Gliosis, Abnormal cerebral white matter morphology, Microcephaly, Abno... OMIM:300957
Li-Ghorbani-Weisz-Hubshman Syndrome
Prominent nasal bridge, Attention deficit hyperactivity disorder, Seizure, Depressed nasal bridge... OMIM:618974
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Seizure, Microcephaly, Abnormal... ORPHA:228402
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Short nose, Attention deficit hyperactivity disorder, Abnormal repetitive manner... OMIM:613670
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Prominent nasal bridge, Underdeveloped nasal alae, Attention deficit ... OMIM:618825
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Infantile spasms, Thin corpus callosum, Myoclonic seizure... ORPHA:572013
Developmental And Epileptic Encephalopathy 64
Status epilepticus, Broad nasal tip, Inability to walk, Low insertion of columella, Bruxism, Chor... OMIM:618004
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Depressed nasal bridge, Partial agenesis of the corpus callosum, Attention deficit ... OMIM:619103
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Short nasal septum, Microcephaly, Anosmia, Depressed nasal bridge OMIM:302950
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Status epilepticus, Cerebral atrophy, Ataxia, Cerebral cortical neurodegeneration, Astrocytosis, ... OMIM:203700
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Seizure, Cleft ala nasi, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:164180
Parkinson Disease 8, Autosomal Dominant
Lewy bodies, Substantia nigra gliosis, Hyposmia, Dementia OMIM:607060
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Focal-onset seizure, Ataxia, Difficulty walking, Cognitive impairment, Inappropriate laughter, Ce... OMIM:618476
Intellectual Developmental Disorder, Autosomal Recessive 58
Abnormal repetitive mannerisms, Pica, Choreoathetosis OMIM:617270
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Cessation of head growth, Abnormal eating behavior, Hyperactivity, Ataxia, Secondary microcephaly... ORPHA:98794
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia, Agenesis of corpus callosum, Hyposmia OMIM:147950
Septo-Optic Dysplasia Spectrum
Absent septum pellucidum, Septo-optic dysplasia, Seizure, Polydipsia, Anosmia, Agenesis of corpus... ORPHA:3157
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Ataxia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Motor tics, Noc... OMIM:619725
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Cerebral atrophy, Falls, Astrocytosis, Neurofibrillary tangles, M... OMIM:601104
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Myoclonic seizure, Focal impaired awareness seizure, Attention deficit hyperactivi... OMIM:617600
Developmental Delay With Variable Neurologic And Brain Abnormalities
Thin corpus callosum, Wide nose, Gray matter heterotopia, Seizure, Anteverted nares, Microcephaly OMIM:619694
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Agenesis of the anterior commissure, Type II lissencephaly, Polymicrogyria, Impaired social inter... ORPHA:300570
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Seizure, Generalized non-motor (absence) seizure, Abnormal repetitive mannerisms OMIM:613886
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Anosmia, Hyposmia OMIM:617885
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Clonic seizure, Myoclonic seizure, EEG abnormality, Tonic seizure, Bilateral tonic... OMIM:617281
3-Hydroxyisobutyric Aciduria
Congenital intracerebral calcification, Microcephaly, Abnormality of neuronal migration OMIM:236795
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, EEG with focal spikes, Cognitive impairment, Attention deficit hypera... ORPHA:98784
Hydrolethalus
Absent septum pellucidum, Anencephaly, Arrhinencephaly, Abnormality of the sense of smell, Agenes... ORPHA:2189
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge, Cerebral calcification ORPHA:377
Intellectual Developmental Disorder, Autosomal Dominant 48
Polymicrogyria, Hyperactivity, Prominent nasal bridge, Lateral ventricle dilatation, Anteverted n... OMIM:617751
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum, Dysdiadochokinesis OMIM:231950
Angelman Syndrome Due To A Point Mutation
Cessation of head growth, Abnormal eating behavior, Secondary microcephaly, Ataxia, EEG abnormali... ORPHA:411511
Neonatal Adrenoleukodystrophy
EEG abnormality, Anteverted nares, Seizure, Wide nasal bridge, Abnormality of neuronal migration ORPHA:44
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hypoesthesia, Impaired proprioception, Hyposmia, Pain insensitivity, Impaired vibratory sensation... OMIM:616488
Bardet-Biedl Syndrome 17
Anosmia, Polydipsia, Hyposmia, Cognitive impairment OMIM:615994
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Prominent nasal bridge, Dysplastic corpus callosum, Anteverted nares, Seizure, ... OMIM:616900
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia, Bifid nose OMIM:614838
Cockayne Syndrome Type 3
Progressive microcephaly, Unsteady gait, Difficulty walking, Astrocytosis, Cognitive impairment, ... ORPHA:90324
Radio-Tartaglia Syndrome
Prominent nasal bridge, Ataxia, Attention deficit hyperactivity disorder, Gray matter heterotopia... OMIM:619312
X-Linked Intellectual Disability, Cantagrel Type
Short nose, Seizure, Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Cerebral ... ORPHA:85277
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Gray matter heterotopia, Pachygyria, Microcephaly, Agenesis of c... ORPHA:2512
Potocki-Lupski Syndrome
Hyperactivity, EEG abnormality, Seizure, Oral-pharyngeal dysphagia, Microcephaly, Abnormal repeti... OMIM:610883
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Inability to walk, Prominent nasal bridge, Ataxia, Bruxism, Tonic seizure, Ch... OMIM:300260
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypsarrhythmia, Frontal polymicrogyria, Focal-onset seizure, Bilateral tonic-clonic seizure with ... OMIM:620024
Shukla-Vernon Syndrome
Wide nasal base, Attention deficit hyperactivity disorder, Seizure, Abnormal repetitive mannerism... OMIM:301029
Fragile X Syndrome
Seizure, Recurrent hand flapping, Hyperactivity, Periventricular heterotopia OMIM:300624
Developmental And Epileptic Encephalopathy 100
Broad nasal tip, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 year... OMIM:619777
Refsum Disease, Classic
Anosmia, Somatic sensory dysfunction, Ataxia OMIM:266500
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Anteverted nares, Seizure, Microcephaly, Abnormal repetitive manne... OMIM:618347
5Q14.3 Microdeletion Syndrome
Short nose, Anteverted nares, Seizure, Abnormal repetitive mannerisms, Hypoplasia of the corpus c... ORPHA:228384
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Infantile spasms, Long nose, Hypsarrhythmia, Primary microcephaly, Inability to walk, EEG abnorma... ORPHA:457351
Hypomelanosis Of Ito
Seizure, Cerebral atrophy, Microcephaly, Gray matter heterotopia OMIM:300337
Childhood Absence Epilepsy
Limb myoclonus, Myoclonic absence seizure, Febrile seizure (within the age range of 3 months to 6... ORPHA:64280
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Agitation, Disinhibition, Lewy bodies, Neurofibrillary tangles, Frontotemporal dement... OMIM:607485
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell, Microcephaly ORPHA:3201
Developmental And Epileptic Encephalopathy 2
Infantile spasms, Hypsarrhythmia, Inability to walk, Progressive microcephaly, Generalized-onset ... OMIM:300672
Intellectual Developmental Disorder, Autosomal Recessive 39
Prominent nose, Abnormal repetitive mannerisms, Hyperactivity, Microcephaly OMIM:615541
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure with focal onset, Gait disturbance, Progressive microcephaly, Diff... ORPHA:488627
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Difficulty walking, Astrocytosis, Abnormal globus pallidus morphology, Dysdiado... ORPHA:309854
Coffin-Siris Syndrome 6
Broad nasal tip, Tics, Attention deficit hyperactivity disorder, Seizure, Abnormal repetitive man... OMIM:617808
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Holoprosencephaly
Depressed nasal tip, Absent nares, Aplasia/Hypoplasia involving the nose, Cognitive impairment, C... ORPHA:2162
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Thin corpus callosum, Difficulty walking, Generalized-onset seizure, Gait ataxia, Microcephaly, R... OMIM:617807
Intellectual Developmental Disorder, Autosomal Recessive 41
Broad nasal tip, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor... OMIM:615637
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Broad nasal tip, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention ... OMIM:618354
Smith-Magenis Syndrome
Impaired pain sensation, Head-banging, Hyperactivity, EEG abnormality, Seizure, Wide nasal bridge... OMIM:182290
Mucolipidosis Iv
Progressive neurologic deterioration, Microcephaly, Cerebral dysmyelination, Dysplastic corpus ca... OMIM:252650
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Distal sensory impairment, Cerebral atrophy, Ataxia, Absent brainstem auditory responses, Decreas... OMIM:609136
Chromosome 2Q37 Deletion Syndrome
Broad nasal tip, Hyperactivity, Wide nose, Pain insensitivity, Seizure, Anteverted nares, Stereot... OMIM:600430
Dworschak-Punetha Neurodevelopmental Syndrome
Colpocephaly, Dysplastic corpus callosum, Seizure, Microcephaly, Depressed nasal bridge, Agenesis... OMIM:619955
Joubert Syndrome
Polymicrogyria, Gait disturbance, Prominent nasal bridge, Ataxia, Anteverted nares, Seizure, Apla... ORPHA:475
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Anteverted nares, Seizure, Abnormality of neuronal migration ORPHA:1895
Chromosome 15Q11.2 Deletion Syndrome
Impaired social interactions, Ataxia, Attention deficit hyperactivity disorder, Memory impairment... OMIM:615656
Leber Congenital Amaurosis
Seizure, Abnormality of neuronal migration ORPHA:65
Snijders Blok-Campeau Syndrome
Infantile spasms, Thin corpus callosum, Unsteady gait, Myoclonic seizure, Attention deficit hyper... OMIM:618205
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Polymicrogyria, Prominent nasal bridge, Anteverted nares, Seizure, Microcephaly, Abnormal repetit... ORPHA:500159
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Disinhibition, Abnormal repetitive mannerisms, Frontotemporal dementia, Dysphagia OMIM:612069
Aural Atresia, Congenital
Hyposmia OMIM:607842
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Status epilepticus, Macrogyria, Short nose, Absent se... ORPHA:35107
Kallmann Syndrome
Gait disturbance, Ataxia, Hyposmia, Seizure, Anosmia ORPHA:478
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormal periventricular white matter morphology, Pachygyria, Abnormality of neuronal migration OMIM:608840
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, Focal-onset seizure, Inability to walk, Agitation, EEG abnormality, EEG with ... OMIM:619229
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin corpus callosum, Overfriendliness, Underdeveloped nasal alae, Attention deficit hyperactivit... OMIM:619293
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Bilateral tonic-clonic seizure, Seizure, Gliosis, Microcephaly, Abnormal repeti... ORPHA:457240
Musk, Inability To Smell
Anosmia OMIM:254150
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
16P13.11 Microdeletion Syndrome
Generalized-onset seizure, EEG abnormality, Short nose, Anteverted nares, Compulsive behaviors, M... ORPHA:261236
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Anteverted nares, Seizure, Microcephaly, Wide nasal bridge, Cerebral cortical atrophy, Abnormalit... ORPHA:2518
Bilateral Perisylvian Polymicrogyria
Infantile spasms, Focal-onset seizure, EEG with parietal focal spikes, Pseudobulbar paralysis, Ch... ORPHA:98889
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
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Agitation, Cognitive impairment, Seizure, Microcephaly, Abnormal repetitive mannerisms ORPHA:927
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia, Microcephaly ORPHA:2316
Thanatophoric Dysplasia Type 2
Seizure, Depressed nasal bridge, Cognitive impairment, Abnormality of neuronal migration ORPHA:93274
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia, Ataxia OMIM:308700
Refsum Disease
Anosmia, Ataxia ORPHA:773
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Secondary microcephaly, Febrile seizure (within the age range of 3 months to 6 years), Attention ... OMIM:620073
Solitary Median Maxillary Central Incisor
Choanal atresia, Pyriform aperture stenosis, Midnasal stenosis, Microcephaly, Anosmia, Abnormal n... OMIM:147250
Galloway-Mowat Syndrome
EEG abnormality, Cognitive impairment, Seizure, Pachygyria, Microcephaly, Abnormality of neuronal... ORPHA:2065
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypoplasia of the corpus callosum, Attention deficit hyperactivity disorder, Scissor gait, Microc... OMIM:619121
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Absent septum pellucidum, Seizure, Pachyg... ORPHA:899
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Athetosis, Chorea, Dysphagia, Wide n... OMIM:619435
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Bruxism, Attention deficit hyperactivity disorder, Anteverted nares, Microcephaly,... OMIM:618342
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Myoclonic spasms, Infantile spasms, Hair-pulling, Hypsarrhythmia, Primary microcephaly, Hyperacti... ORPHA:447997
Vici Syndrome
Depressed nasal tip, EEG abnormality, Gray matter heterotopia, Seizure, Agenesis of corpus callos... ORPHA:1493
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Short nose, Seizure, Bulbous nose, Abnormal repetitive mannerisms, Depress... OMIM:618430
Congenital Disorder Of Deglycosylation 2
Polymicrogyria, Impaired social interactions, Thin corpus callosum, Partial agenesis of the corpu... OMIM:619775
Polyendocrine-Polyneuropathy Syndrome
Abnormality of the sense of smell, Ataxia OMIM:616113
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, Secondary microcephaly, Ataxia, Underdeveloped nasal alae, Attention deficit hy... OMIM:300986
Periventricular Nodular Heterotopia 9
Polymicrogyria, Periventricular nodular heterotopia, Focal-onset seizure, Attention deficit hyper... OMIM:618918
Kallmann Syndrome With Spastic Paraplegia
Anosmia, Ataxia OMIM:308750
Joubert Syndrome With Oculorenal Defect
Prominent nasal bridge, Ataxia, Anteverted nares, Seizure, Aplasia/Hypoplasia of the corpus callo... ORPHA:2318
Amoebiasis Due To Free-Living Amoebae
Ataxia, Restlessness, Abnormal basal ganglia morphology, Encephalomalacia, Hyposmia, Cerebral ede... ORPHA:68
Meningioma
Transient global amnesia, Focal-onset seizure, Difficulty walking, Ataxia, Cognitive impairment, ... ORPHA:2495
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the sense of... ORPHA:284160
9Q21.13 Microdeletion Syndrome
Difficulty walking, Wide nasal ridge, Gray matter heterotopia, Seizure, Aplasia/Hypoplasia of the... ORPHA:531151
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Intellectual Developmental Disorder, Autosomal Dominant 34
Secondary microcephaly, Bruxism, Bilateral tonic-clonic seizure, Anteverted nares, Abnormal repet... OMIM:616351
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Prominent nasal bridge, Anteverted nares, Seizure, Mic... OMIM:617796
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Shyness, Attention deficit hyperactivity disorder, S... ORPHA:449291
Rett Syndrome
Primary microcephaly, Progressive microcephaly, Inability to walk, Agitation, Gait disturbance, D... ORPHA:778
Smith-Magenis Syndrome
Impaired pain sensation, Gait disturbance, EEG abnormality, Short nose, Attention deficit hyperac... ORPHA:819
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Inappropriate laughter, Bilateral tonic-clonic seizure, Generalized non-motor (... OMIM:615802
Man1B1-Cdg
Polyphagia, Underdeveloped nasolabial fold, Wide nose, Seizure, Wide nasal bridge, Prominent nose... ORPHA:397941
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Abnormal nostril morphology ORPHA:1295
Inverted Duplicated Chromosome 15 Syndrome
Broad nasal tip, Hyperactivity, Seizure, Microcephaly, Abnormal repetitive mannerisms ORPHA:3306
Even-Plus Syndrome
Bifid nasal tip, Short nose, Dysplastic corpus callosum, Depressed nasal ridge, Agenesis of corpu... OMIM:616854
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Secondary microcephaly, Attention deficit hyperactivity disorder, Seizure, Abnorma... OMIM:620242
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Polymicrogyria, Diffuse white matter abnormalities, Gray matter heterotopi... ORPHA:370959
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Nonprogressive cerebellar ataxia, Unsteady gait, Ataxia, Abnormal soc... ORPHA:314647
3P25.3 Microdeletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Generalized myo... ORPHA:435638
Congenital Hypothyroidism
Anosmia, Paresthesia, Depressed nasal ridge ORPHA:442
Optic Atrophy-Intellectual Disability Syndrome
Prominent nasal bridge, Attention deficit hyperactivity disorder, Anteverted nares, Repetitive co... ORPHA:401777
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Attention deficit hyperactivity disorder, Pain insensitivity, Dysphagia, Seizure, Mic... OMIM:617061
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Simplified gyral pattern, Gray matter heterotopia, Seizure, Microcephaly, Bulbous n... OMIM:615219
Intellectual Developmental Disorder, Autosomal Dominant 38
Infantile spasms, Hair-pulling, Cerebral atrophy, Ataxia, Bruxism, Microcephaly, Generalized toni... OMIM:616393
Phelan-Mcdermid Syndrome
Impaired pain sensation, Concave nasal ridge, Impaired social interactions, Unsteady gait, Bruxis... OMIM:606232
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms, Seizure, Depressed nasal bridge, Agenesis of corpus callosum ORPHA:238750
Foxg1 Syndrome Due To 14Q12 Microdeletion
Short nose, Seizure, Microcephaly, Bulbous nose, Abnormal repetitive mannerisms, Depressed nasal ... ORPHA:261144
Cerebral Creatine Deficiency Syndrome 1
Impaired social interactions, Gait disturbance, Attention deficit hyperactivity disorder, Seizure... OMIM:300352
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal cerebral white matter morphology, Microcephaly, Prominent nose, Abnormal ... ORPHA:391307
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Thin corpus callosum, Short nose, Lateral ventricle dilatation, Anteverted nares, Microcephaly, B... OMIM:614105
Joubert Syndrome 30
Seizure, Gray matter heterotopia OMIM:617622
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Wide nose, Seizure, Microcephaly, Depressed nasal ridge... ORPHA:1727
Chromosome 5P13 Duplication Syndrome
Seizure, Wide nasal bridge, Bulbous nose, Abnormal repetitive mannerisms, Agenesis of corpus call... OMIM:613174
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Abnormal repetitive mannerisms, Seizure, Gait disturbance OMIM:301094
Wilson Disease
Hypoesthesia, Decreased nerve conduction velocity, Hyposmia, Dementia, Dysphagia, Seizure OMIM:277900
Metachromatic Leukodystrophy, Adult Form
Difficulty walking, Progressive gait ataxia, Decreased nerve conduction velocity, Punctate perive... ORPHA:309271
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Infantile spasms, Focal impaired awareness seizure, Attention deficit hyperactivity disorder, Per... OMIM:618929
6Q Terminal Deletion Syndrome
Colpocephaly, Polymicrogyria, Hypsarrhythmia, Gray matter heterotopia, Gait ataxia, Seizure, Abno... ORPHA:75857
Miller-Dieker Lissencephaly Syndrome
Infantile spasms, Midline brain calcifications, Short nose, Epileptic spasm, Gray matter heteroto... OMIM:247200
8P11.2 Deletion Syndrome
Seizure, Depressed nasal bridge, Microcephaly, Anosmia ORPHA:251066
Neurocutaneous Melanocytosis
EEG abnormality, Seizure, Abnormality of neuronal migration ORPHA:2481
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Attention deficit hyperactivity disorder, Microcephaly, Abnormal repetitive manner... OMIM:620141
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Chiari Malformation Type Ii
Dysphagia, Agenesis of corpus callosum, Ataxia, Gray matter heterotopia OMIM:207950
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Seizure, Cognitive impairment, Abnormality of neuronal migration ORPHA:2063
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Infantile spasms, Cerebral atrophy, Anteverted nares, Gray matter heterotopia, Depressed nasal br... OMIM:618797
Alazami Syndrome
Abnormal eating behavior, Wide nose, Seizure, Stereotypical hand wringing, Abnormal repetitive ma... ORPHA:319671
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration ORPHA:2772
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Head-banging, Status epilepticus, Dysplastic corpus callosum, Seizure, Microcephaly, Wide nasal b... OMIM:618569
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Seizure, EEG with generalized slow activity, Wide nasal bridge ORPHA:397612
White-Sutton Syndrome
Depressed nasal tip, Broad nasal tip, Thin corpus callosum, Cerebral atrophy, Overfriendliness, H... OMIM:616364
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Progressive gait ataxia, Punctate periventricular T2 hyperin... ORPHA:309263
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Attention deficit hyperactivity disorder, Lateral ventricle dilatation, Dysplastic corpus callosu... ORPHA:544488
Cerebrofacioarticular Syndrome
Bilateral choanal atresia/stenosis, Ataxia, Dysplastic corpus callosum, Gray matter heterotopia, ... ORPHA:314679
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Acalvaria
Abnormality of neuronal migration ORPHA:945
Thanatophoric Dysplasia
Seizure, Depressed nasal bridge, Gray matter heterotopia ORPHA:2655
Metachromatic Leukodystrophy, Late Infantile Form
Progressive gait ataxia, Tip-toe gait, Punctate periventricular T2 hyperintense foci, Abnormal so... ORPHA:309256
48,Xxyy Syndrome
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder, Ataxia ORPHA:10
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Hyperactivity, Gait ataxia, Seizure, Prominent nose, Abnormal repetitive mannerisms OMIM:300486
Coffin-Siris Syndrome 7
Hyperactivity, Anteverted nares, Wide nose, Thick nasal alae, Convex nasal ridge, Abnormal repeti... OMIM:618027
Coffin-Lowry Syndrome
Gait disturbance, Wide nose, Anteverted nares, Seizure, Thick nasal alae, Aplasia/Hypoplasia of t... ORPHA:192
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Unsteady gait, Decreased amplitude of sensory action potentials, Bilateral toni... OMIM:618733
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Hyposmia, Microcephaly, Abnormal repetitive mannerisms, Hypoplasia of the cor... OMIM:618653
Pseudo-Torch Syndrome 2
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Cerebral calcification, Se... OMIM:617397
Ciliary Dyskinesia, Primary, 1
Anosmia, Recurrent bronchitis, Chronic rhinitis, Nasal polyposis OMIM:244400
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Abnormal basal ganglia morphology, Cerebral calcification, Seizure, Pachygyria, A... ORPHA:157
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Thick nasal alae, Broad columella, Wide nasal bridge, Focal white mat... ORPHA:557003
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Thin corpus callosum, Ataxia, Short nose, Microcephaly, Periventricular leukomalaci... OMIM:619833
Developmental And Speech Delay Due To Sox5 Deficiency
Abnormal repetitive mannerisms, Seizure, Attention deficit hyperactivity disorder ORPHA:313892
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Basal ganglia cysts, Intracerebral periventricular calcifications, Seizure, Micro... OMIM:608836
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia OMIM:615960
Acromelic Frontonasal Dysostosis
Broad nasal tip, Periventricular nodular heterotopia, Midline defect of the nose, Bifid nasal tip... OMIM:603671
Joubert Syndrome With Hepatic Defect
Gait disturbance, Prominent nasal bridge, Ataxia, Anteverted nares, Seizure, Aplasia/Hypoplasia o... ORPHA:1454
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Unsteady gait, Ataxia, Short nose, Lateral ventricle dilatat... ORPHA:457279
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Polymicrogyria, Hypoplasia of the frontal lobes, Cerebral atrophy, Prominent nasal bridge, Simpli... ORPHA:468631
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Megalocornea-Intellectual Disability Syndrome
Ataxia, EEG abnormality, Seizure, Microcephaly, Wide nasal bridge, Abnormal repetitive mannerisms ORPHA:2479
Proximal 16P11.2 Microdeletion Syndrome
Impaired social interactions, Attention deficit hyperactivity disorder, Seizure, Abnormal repetit... ORPHA:261197
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Overfriendliness, Gait ataxia, Microcephaly, Abnormal repetitive mannerisms OMIM:616579
Kapur-Toriello Syndrome
Bulbous nose, Polymicrogyria, Pachygyria, Dysplastic corpus callosum ORPHA:2328
Alkuraya-Kucinskas Syndrome
Short nose, Gray matter heterotopia, Anteverted nares, Seizure, Aplasia/Hypoplasia of the corpus ... OMIM:617822
White-Sutton Syndrome
Broad nasal tip, Subcortical cerebral atrophy, Hyperactivity, EEG abnormality, Febrile seizure (w... ORPHA:468678
Isolated Follicle Stimulating Hormone Deficiency
Anosmia ORPHA:52901
Choreoacanthocytosis
Bruxism, Loss of ambulation, Bilateral tonic-clonic seizure, Mental deterioration, Small basal ga... ORPHA:2388
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Seizure, Anteverted nares, Wide nasal bridge, Dysplastic corpus callosum OMIM:618810
Moebius Syndrome
Dysphagia, Abnormality of the sense of smell ORPHA:570
Peroxisome Biogenesis Disorder 13A (Zellweger)
Polymicrogyria, Gray matter heterotopia, Seizure, Wide nasal bridge, Depressed nasal bridge OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heter... OMIM:614643
Orofaciodigital Syndrome Type 6
Broad nasal tip, Gait disturbance, Prominent nasal bridge, Ataxia, Seizure, Aplasia/Hypoplasia of... ORPHA:2754
2Q37 Microdeletion Syndrome
Underdeveloped nasal alae, Attention deficit hyperactivity disorder, Anteverted nares, Seizure, M... ORPHA:1001
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia, Dysphagia, Seizure, Gliosis, Depressed nasal bridge ORPHA:26791
Bainbridge-Ropers Syndrome
Broad nasal tip, Inability to walk, Prominent nasal bridge, Underdeveloped nasal alae, Short nose... OMIM:615485
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Stereotypical body rocking, Bilate... ORPHA:513456
Prader-Willi Syndrome Due To Translocation
Head-banging, Broad nasal tip, Impaired social interactions, Underdeveloped nasolabial fold, Shor... ORPHA:177907
Cri-Du-Chat Syndrome
Hyperactivity, Difficulty walking, Overfriendliness, Microcephaly, Wide nasal bridge, Abnormal re... OMIM:123450
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Intracerebral periventricular calcifications, Abnormal basal ganglia morphology, ... ORPHA:228308
Periventricular Nodular Heterotopia
Focal-onset seizure, Periventricular heterotopia ORPHA:98892
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Prominent nasal bridge, Attention deficit hyperactivity disorder, Seizure, Simp... ORPHA:464311
Short Stature, Developmental Delay, And Congenital Heart Defects
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:617044
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Primary microcephaly, Ataxia, Secondary microcephaly, Febrile seizure (within the age range of 3 ... ORPHA:496641
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Primary microcephaly, Secondary microcephaly, Short nose, Attention deficit hyperactivity disorde... ORPHA:476126
Nmda Receptor Encephalitis
Status epilepticus, EEG with temporal sharp slow waves, Focal-onset seizure, Agitation, Generaliz... ORPHA:217253
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Low insertion of columella, EEG abnormality, Short nose, Attention defic... OMIM:619005
Orofaciodigital Syndrome Xvi
Depressed nasal bridge, Inability to walk, Ataxia, Gray matter heterotopia OMIM:617563
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Absent septum pellucidum, Attention deficit hyperactivity disorder, Anteverted nares, Convex nasa... OMIM:618870
Niemann-Pick Disease Type C
Status epilepticus, Focal-onset seizure, Cerebral atrophy, Ataxia, Gait disturbance, Generalized-... ORPHA:646
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Niemann-Pick Disease, Type C2
Ataxia, Dementia, Neurofibrillary tangles, Dysphagia, Seizure, Abnormal repetitive mannerisms OMIM:607625
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, Ataxia, EEG abnormality, Short nose, EEG with series of focal spik... ORPHA:522077
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum OMIM:604273
Combined Oxidative Phosphorylation Deficiency 53
Seizure, Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Holoprosencephaly 14
Partial agenesis of the corpus callosum, EEG abnormality, Absent septum pellucidum, Bilateral ton... OMIM:619895
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Pachygyria, Wide nasal bridge, Depressed ... ORPHA:2211
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Absent septum pellucidum, Cerebral calcif... ORPHA:2671
7Q11.23 Microduplication Syndrome
Polyphagia, Broad nasal tip, Impaired social interactions, Unsteady gait, Hyperactivity, Collecti... ORPHA:96121
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Seizure, Hypoplasia of the corpus callosum, Agenesis of corpus callos... OMIM:614924
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Focal-onset seizure, Agitation, Bruxism, EEG abnormality, Febrile seizure (within the age range o... OMIM:619475
Bohring-Opitz Syndrome
Gray matter heterotopia, Anteverted nares, Seizure, Microcephaly, Wide nasal bridge, Depressed na... OMIM:605039
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Koolen-De Vries Syndrome
Hyperactivity, Prominent nasal bridge, Pear-shaped nose, Gray matter heterotopia, Seizure, Microc... OMIM:610443
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Shyness, Short nose, Attention deficit hyperactivity disorder, Seizure, Microce... OMIM:301030
Occipital Horn Syndrome
Dysphagia, Abnormality of the sense of smell, Cerebral calcification ORPHA:198
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Unsteady gait, Loss of ambulation, Gray matter heterotopia, Dysphagia, Seizure, A... OMIM:214100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long nose, Inability to walk, Generalized-onset seizure, Short nose, Anteverted nares, Focal myoc... ORPHA:508533
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Single naris, Hyposmia, Absent nares ORPHA:2250
Congenital Disorder Of Glycosylation, Type Iia
Prominent nasal bridge, Unsteady gait, Seizure, Microcephaly, Convex nasal ridge, Stereotypical h... OMIM:212066
16Q24.3 Microdeletion Syndrome
Colpocephaly, Anteverted nares, Dysphagia, Seizure, Hypoplasia of the corpus callosum, Periventri... ORPHA:261250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Bruxism, Underdeveloped nasal alae, Gray matter heterotopia, Seizure, Mi... ORPHA:453499
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Thin corpus callosum, Hyperactivity, Partial agenesis of the corpus callosum, Myoclonic seizure, ... OMIM:619512
Pitt-Hopkins Syndrome
Secondary microcephaly, Flared nostrils, Gait ataxia, Seizure, Microcephaly, Wide nasal bridge, A... OMIM:610954
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms, Seizure ORPHA:529965
Wiedemann-Steiner Syndrome
Abnormal corpus callosum morphology, Hyperactivity, Short nose, Dysphagia, Seizure, Microcephaly,... ORPHA:319182
Thanatophoric Dysplasia Type 1
Seizure, Depressed nasal bridge, Gray matter heterotopia ORPHA:1860
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Simplified gyral pattern, Gray matter heterotopia, Pachygyri... OMIM:601390
Mismatch Repair Cancer Syndrome 1
Astrocytoma, Gray matter heterotopia, Pleomorphic xanthoastrocytoma, Ependymoma, Oligodendrogliom... OMIM:276300
3C Syndrome
Short nose, Wide nasal bridge, Depressed nasal bridge, Abnormality of neuronal migration ORPHA:7
Nijmegen Breakage Syndrome
Prominent nasal bridge, Glioma, Attention deficit hyperactivity disorder, Mental deterioration, M... ORPHA:647
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Abnormal repetitive mannerisms, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, ... OMIM:618914
Helsmoortel-Van Der Aa Syndrome
Polyphagia, Broad nasal tip, Impaired social interactions, Hyperactivity, Bruxism, Short nose, To... OMIM:615873
Charge Syndrome
Choanal atresia, Attention deficit hyperactivity disorder, Microcephaly, Anosmia, Depressed nasal... ORPHA:138
Aicardi Syndrome
Infantile spasms, Polymicrogyria, Partial agenesis of the corpus callosum, Epileptic spasm, Later... OMIM:304050
Genitourinary And/Or Brain Malformation Syndrome
Colpocephaly, Polymicrogyria, Secondary microcephaly, Short nose, Absent septum pellucidum, Atten... OMIM:618820
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms, Seizure OMIM:617682
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad nasal tip, Prominent nasal bridge, Ataxia, Broad-based gait, Pain insensitivity, Dysphagia,... OMIM:617330
Kleefstra Syndrome 1
Anteverted nares, Seizure, Microcephaly, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:610253
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Bilateral tonic-c... OMIM:614756
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Impaired pain sensation, Broad nasal tip, Inability to walk, Bruxism, Underdeveloped nasal alae, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Impaired pain sensation, Broad nasal tip, Inability to walk, Bruxism, Underdeveloped nasal alae, ... ORPHA:352665
Tuberous Sclerosis Complex
Infantile spasms, Status epilepticus, Focal-onset seizure, Hyperactivity, Subependymal giant-cell... ORPHA:805
Opitz-Kaveggia Syndrome
Partial agenesis of the corpus callosum, Choanal atresia, Attention deficit hyperactivity disorde... OMIM:305450
Monosomy 22Q13.3
Impaired pain sensation, Hair-pulling, Hyperactivity, Bruxism, Seizure, Wide nasal bridge, Bulbou... ORPHA:48652
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Infantile spasms, Hypsarrhythmia, Focal-onset seizure, EEG abnormality, Short nose, Multifocal se... OMIM:301044
Kleefstra Syndrome
Short nose, Anteverted nares, Seizure, Microcephaly, Abnormal repetitive mannerisms, Agenesis of ... ORPHA:261494
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Underdeveloped nasal alae, Anteverted nares, Depressed nasal bridge, Gray matter heterotopia OMIM:608624
Rauch-Steindl Syndrome
Hyperactivity, Microcephaly, Wide nasal bridge, Abnormal repetitive mannerisms, Depressed nasal b... OMIM:619695
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Attention deficit hyperactivity disorder, Lateral ventricle dilatation, Seizure, Ab... OMIM:619575
Vici Syndrome
Schizencephaly, Gray matter heterotopia, Dysphagia, Seizure, Wide nose, Microcephaly, Depressed n... OMIM:242840
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Polymicrogyria, Status epilepticus, Colpocephaly, Hypoplasia of the f... OMIM:210710
Lacrimoauriculodentodigital Syndrome
Dysphagia, Seizure, Choanal atresia, Anosmia ORPHA:2363
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Gray matter heterotopia, Wide nasal bridge, Depressed nasal ... OMIM:615546
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Ventriculomegaly With Cystic Kidney Disease
Seizure, Gray matter heterotopia OMIM:219730
Dyrk1A-Related Intellectual Disability Syndrome
Primary microcephaly, Gait disturbance, Hyperactivity, Prominent nasal bridge, Febrile seizure (w... ORPHA:464306
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Long nose, Low hanging columella, Dysplastic corpus callosum ORPHA:363444
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cerebral atrophy, Short nose, Bilateral tonic-clonic seizure, Anteverted nares, Seizure, Microcep... OMIM:301040
Kinsship Syndrome
Focal-onset seizure, Primary microcephaly, Bruxism, Bilateral tonic-clonic seizure, Generalized n... OMIM:619297
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Prominent nasal bridge, Ataxia, Shyness, Pseudobulbar paralysis, Dysplastic corpus callosum, Seiz... ORPHA:466791
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Orofaciodigital Syndrome I
Abnormal cortical gyration, Cerebral atrophy, Underdeveloped nasal alae, Porencephalic cyst, Gray... OMIM:311200
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Dysplastic corpus callosum, Seizure, Thick corpus callosum, Narrow nasal bridge, Prominen... OMIM:300967
Mucopolysaccharidosis Type 2
Hyperactivity, Cognitive impairment, Progressive neurologic deterioration, Decreased nerve conduc... ORPHA:580
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Choanal atresia, Aplasia of the nose OMIM:603457
Cystinosis
Abnormal repetitive mannerisms, Polydipsia, Gait disturbance ORPHA:213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Absent septum pellucidum, Gray matter heterotopia, Anencephaly, Seizure, A... OMIM:615287
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Multifocal seizures, EEG with occipital focal spikes, EEG with ce... OMIM:301066
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Polymicrogyria, Generalized-onset seizure, Simplified gyral pattern, Ischemic stroke, Short nose,... ORPHA:500150
Zttk Syndrome
Status epilepticus, Short nose, Dysplastic corpus callosum, Seizure, Abnormal cerebral white matt... OMIM:617140
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Hyperactivity, Secondary microcephaly, EEG abnormality, Low hanging... ORPHA:353281
Thanatophoric Dysplasia, Type I