Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased exploration in new environment Cntnap2em1(IMPC)H HOM   Early adult 5.84×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

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
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Cor... OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioratio... 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
Schizophrenia 19
Cognitive impairment OMIM:617629
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Alzheimer Disease 10
Memory impairment, Dementia OMIM:609636
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Gray matter heterotopia, Hyperactivity, Microcephaly, Hemiparesis, Polymicrogyria, Hy... OMIM:604317
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... ORPHA:280397
Foix-Chavany-Marie Syndrome
Gait disturbance, Cognitive impairment ORPHA:2048
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Poor eye contact, Periventricular nodular heterotopia, Microcephaly,... OMIM:608097
Spinocerebellar Degeneration With Slow Eye Movements
Gait disturbance, Cognitive impairment OMIM:271322
Sub-Cortical Nodular Heterotopia
EEG with focal spikes, Abnormal basal ganglia morphology, Abnormality of neuronal migration, Poly... ORPHA:101029
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypertonia, Infantile spasms, Myoclonic seizure, Hypoplasia of the corpus callosum, Periventricul... OMIM:618677
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Mental deterioration, Abnormality of extrapyramidal motor function, Fasciculati... ORPHA:275864
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Gray matter heterotopia, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Agy... OMIM:615411
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Gliosis, Cerebral atrophy, Cognitive impairment, Myoclonus, Babinski sign, Abnormal pyram... ORPHA:204
Focal Cortical Dysplasia, Type Ii
Focal cortical dysplasia type II, Focal white matter lesions, Focal impaired awareness seizure, C... OMIM:607341
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Microcephaly, Cortical dysplasia, Attention deficit hyperactivity disor... OMIM:618709
Isolated Lissencephaly Type 1 Without Known Genetic Defects
EEG with changes in voltage, Gray matter heterotopia, Infantile spasms, Motor seizure, Agyria, Sp... ORPHA:1084
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Memory impairment, Dementia ORPHA:85292
Hemimegalencephaly
Status epilepticus, Gliosis, Polymicrogyria, EEG with burst suppression, Hemihypsarrhythmia, Pach... ORPHA:99802
Lissencephaly 3
Ataxia, Gray matter heterotopia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum,... OMIM:611603
Symmetrical Thalamic Calcifications
Hypertonia, Ataxia, EEG abnormality, Cognitive impairment, Cerebral calcification, Microcephaly, ... ORPHA:1314
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Hyperactivity, Cerebral atrophy, Large basal ganglia, EEG with focal epileptifo... ORPHA:88616
Lissencephaly 1
Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Lissencephaly, Seizur... OMIM:607432
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... OMIM:300425
Autism
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... OMIM:608636
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Small basal ganglia, Ataxia, Loss of ambulation, Atrophy/Degeneration involving the c... ORPHA:225154
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Spasticity, Seizure, Pachygyria, Agenesis... OMIM:300067
Microlissencephaly
Cerebral dysmyelination, Bilateral tonic-clonic seizure with generalized onset, Cerebral cortical... ORPHA:1083
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Mental deterioration, Abnormality of extrapyramidal motor function, Pa... ORPHA:100070
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Huntington Disease
Gait imbalance, Inability to walk, Mental deterioration, Babinski sign, Chorea, Abnormal cerebral... ORPHA:399
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly, Attention deficit hyperactivity disorder, Spas... OMIM:618185
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Cerebral cortical atrophy, Myoclonus, Babinski sign, Rigidity, Memory impairmen... OMIM:600795
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Pachygyria, Impaired social interactions, Inability to walk OMIM:606053
Inherited Creutzfeldt-Jakob Disease
EEG with persistent abnormal rhythmic activity, Progressive extrapyramidal muscular rigidity, Clu... ORPHA:282166
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia, Hypsarrhythmia, Seizure OMIM:615544
Nodular Neuronal Heterotopia
Abnormality of neuronal migration, EEG abnormality, Seizure ORPHA:2149
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Cerebral cortical atrophy, Poor eye contact, Inability to walk... OMIM:617820
Unilateral Focal Polymicrogyria
Focal impaired awareness seizure, Cerebral cortical hemiatrophy, Mental deterioration, Intracereb... ORPHA:268947
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Oromotor apraxia, Hypoplasia of the corpus callosum, Polymicrogyria, ... ORPHA:300573
Foxg1 Syndrome
Status epilepticus, Motor stereotypy, Inability to walk, Poor eye contact, Cognitive impairment, ... ORPHA:561854
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Hypoplasia of the corpus cal... OMIM:604213
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Cognitive impairment, Bilateral tonic-clonic seizure with focal... ORPHA:65683
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Periventricular nodular heterotopia, Microcephaly, Spastic paraplegia, Seizure OMIM:618572
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Clonic seizure, Microcephaly, Cortical dysplasia, Polymicrogyria, H... OMIM:615282
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Fusion of the caudate and putamen, Hypoplasia of the corpus cal... OMIM:614039
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Hemiparesis, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Lissence... OMIM:610031
Band Heterotopia
Gray matter heterotopia, Polymicrogyria, Spasticity, Subcortical band heterotopia, Agenesis of co... OMIM:600348
Developmental And Epileptic Encephalopathy 98
Thick corpus callosum, Perisylvian polymicrogyria, Clonic seizure, Poor eye contact, Cerebral atr... OMIM:619605
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality, Hyperactivity, Seizure ORPHA:436151
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Focal motor status epilepticus, Poor coordination, Mic... OMIM:619150
Maternal Hyperthermia-Induced Birth Defects
Hypertonia, EEG abnormality, Cognitive impairment, Microcephaly, Seizure, Abnormality of neuronal... ORPHA:2216
Familial Focal Epilepsy With Variable Foci
Focal impaired awareness seizure, Deja vu aura, Cognitive impairment, Focal aware seizure, EEG wi... ORPHA:98820
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Bulbous nose, Inability to walk, Cerebral atrophy, Microcephaly, Agenesis of corpus callosum, Hyp... OMIM:618492
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, S... OMIM:617862
Developmental And Epileptic Encephalopathy 58
Status epilepticus, Motor stereotypy, Inability to walk, Spastic diplegia, Hypsarrhythmia, Seizur... OMIM:617830
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder, Seizure OMIM:617787
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Broad-based gait, Hyperactivity, Microcephaly, Tremor, Seizure, Spastic tetrapa... OMIM:619470
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Anxiety, Difficulty walking, Attention deficit hyperacti... OMIM:619191
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Cortical dysplasia, Hypoplasia of t... OMIM:617201
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Dysplastic corpus callosum, Poor eye contact, Inability to walk, Microcephaly, Tetrapares... OMIM:618276
Subependymal Nodular Heterotopia
Gray matter heterotopia, Acroparesthesia, Focal aware seizure, EEG with temporal focal spike wave... ORPHA:101030
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Cor... OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioratio... ORPHA:163681
Lissencephaly 4
Hypertonia, Babinski sign, Lissencephaly, Primary microcephaly, Seizure, Simplified gyral pattern... OMIM:614019
Developmental And Epileptic Encephalopathy 97
Inability to walk, Stereotypical hand wringing, Epileptic spasm, Tremor, Hypsarrhythmia, Seizure OMIM:619561
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity, Seizure OMIM:300271
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Cerebral atrophy, Broad nasal tip, Microcephaly, Difficulty walking, Spasticity... OMIM:617393
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Ataxia, Inability to walk, Mental deterioration, Spasticity, Hyperactivi... ORPHA:168491
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Focal motor seizure, Ataxia, Astrocytosis, Photosensitive myoclonic seizure, Slowed slurred speech OMIM:172500
Hyperprolinemia, Type I
Status epilepticus, Motor stereotypy, Ataxia, EEG abnormality, Hyperactivity, Seizure OMIM:239500
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Leukoencephalopathy, Gliosis, Bradykinesia, Mental deterioration, Corpus callosum atrophy, Parkin... OMIM:221820
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Inability to walk, Convulsive status epilepticus, Stereotypical hand wringing, C... OMIM:618760
Landau-Kleffner Syndrome
Focal impaired awareness seizure, Focal myoclonic seizure, Slurred speech, Atypical absence seizu... ORPHA:98818
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, EEG with sp... OMIM:619317
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... OMIM:600512
Developmental And Epileptic Encephalopathy 107
Motor stereotypy, Clonic seizure, Tonic seizure, Microcephaly, Seizure, Progressive microcephaly OMIM:620033
Leber Congenital Amaurosis 10
Hyposmia, Seizure OMIM:611755
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Bulbous nose, Atonic seizure, Poor eye contact, Focal impaired awareness seizur... ORPHA:411986
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality, Abnormal nonverbal communicative behavior, Lack of peer relati... OMIM:300495
Atypical Rett Syndrome
Inability to walk, Hand apraxia, Infantile spasms, Tongue thrusting, Tremor, Spasticity, Impaired... ORPHA:3095
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Bulbous nose, Cerebral cortical atrophy, Microcephaly, Babinski sign, Hypoplasi... ORPHA:280763
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Rasmussen Subacute Encephalitis
Inability to walk, Focal impaired awareness seizure, Cerebral cortical hemiatrophy, Interictal ep... ORPHA:1929
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Atten... OMIM:608716
N-Acetylaspartate Deficiency
Motor stereotypy, Microcephaly, Truncal ataxia, Unsteady gait, Seizure OMIM:614063
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Broad nasal tip, Microcephaly, Stereotypical hand wringing, Spasticity, Hypsarr... ORPHA:500545
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Bulbous nose, Poor eye contact, Inability to walk, Li... OMIM:617695
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Primary microcephaly, Seizure OMIM:618010
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... OMIM:613162
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Astrocytosis, Difficulty walking, Seizure, Megalencephaly, Wide nasal bridge OMIM:611087
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Infantile spasms, Myoclonic seizure, Partial agenesis of the corpus callosum, Bilater... OMIM:619302
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Pontocerebellar Hypoplasia, Type 14
Hypertonia, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Delayed social d... OMIM:619301
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal impaired awareness seizure, Hypoplasia of the ... ORPHA:178469
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum, Glioblastoma multiforme, Astrocytoma OMIM:619101
Cdkl5-Deficiency Disorder
Poor eye contact, Generalized tonic seizure, Infantile spasms, Stereotypical hand wringing, Gait ... ORPHA:505652
Superficial Siderosis
Ataxia, Limb ataxia, Babinski sign, Unsteady gait, Slurred speech, Dysmetria, Abnormal pyramidal ... ORPHA:247245
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Microcephaly, Abnormality of neuronal migration, Seizure ORPHA:1980
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Atypical absence seizure, Ataxia, Cerebral cortical atrophy, Poor eye contact, ... OMIM:619428
Cln5 Disease
Ataxia, Poor gross motor coordination, Inability to walk, Mental deterioration, Truncal ataxia, T... ORPHA:228360
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Periventricul... OMIM:619737
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Microcephaly, Myoclonic seizure, Epileptic spasm... OMIM:619877
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Clonic seizure, Inability to walk, Cerebral atrophy, Tonic seizure, Stereotypic... OMIM:618917
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Infantile spasms, Polymicrogyria, Bilateral tonic-clonic seizure, Sei... ORPHA:250972
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... OMIM:616341
Parkinson Disease 8, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, Hy... OMIM:607060
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Dermoid Cysts, Familial Frontonasal
Nocturnal seizures, Nasal congestion, Seizure, Deviated nasal septum, Anosmia, Wide nasal bridge OMIM:600679
Lissencephaly 5
Leukoencephalopathy, Gray matter heterotopia, Hypoplasia of the corpus callosum, Type II lissence... OMIM:615191
Myoclonic-Astatic Epilepsy
Ataxia, EEG with irregular generalized spike and wave complexes, Tremor, Thick nasal alae, Unstea... ORPHA:1942
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Seizure, Progressive microcephaly, Impaired ... ORPHA:397933
Brain Small Vessel Disease 2
Hemiplegia, Polymicrogyria, Schizencephaly, Bilateral tonic-clonic seizure, Spastic tetraplegia, ... OMIM:614483
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Bulbous nose, Microcephaly, Limb hypertonia, Polymicrogyria, Hypopla... OMIM:616212
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Clumsiness, EEG with focal spike w... ORPHA:352582
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Status epilepticus, Hypertonia, Ataxia, Gliosis, Myoclonus, Astrocytosis, Epilepsia partialis con... OMIM:203700
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Limb ataxia, Dysmetria, Intention tremor, Myoclo... OMIM:607136
Congenital Neuronal Ceroid Lipofuscinosis
Status epilepticus, Cerebral hypoplasia, Gliosis, Microcephaly, Myoclonic seizure, EEG with burst... ORPHA:168486
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Ment... ORPHA:168782
Pontocerebellar Hypoplasia Type 2
Bilateral tonic-clonic seizure with generalized onset, Dysplastic corpus callosum, Lower limb hyp... ORPHA:2524
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, EEG abnormality, Gliosis, Cerebral atrophy, Basal ganglia calcification, Myo... OMIM:221770
Microcephaly 17, Primary, Autosomal Recessive
Bulbous nose, Microcephaly, Spasticity, Seizure, Simplified gyral pattern, Microlissencephaly, Ag... OMIM:617090
Hsd10 Disease
Ataxia, Focal white matter lesions, Spastic paraparesis, Abnormal social behavior, Microcephaly, ... ORPHA:391417
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Cognitive impairment, Spastic diplegia, Microcephaly, Abnormal pyramidal... OMIM:617008
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Prominent nasal tip, Inability to walk, Hyperkinetic m... OMIM:618218
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, EEG abnormality, Microcephaly, Abnormal pyramidal sign, Polymicrogyri... OMIM:614833
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Hyposmia, Painless fractures due to injury, Paresthesia, Impaired propriocept... OMIM:243000
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Generalized tonic seizure, Myoclonus, Epileptic spasm, Hypoplasia of the corpus callo... ORPHA:289266
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Abnormal ... ORPHA:98756
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Cerebral atrophy, Progressive language deterior... ORPHA:79264
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Leukoencephalopathy, Hyposmia, Intention tremor, Head tremor OMIM:613724
Huntington Disease-Like 1
Abnormal basal ganglia morphology, Cerebral cortical atrophy, EEG abnormality, Gliosis, Dysmetria... ORPHA:157941
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Microcephaly, Nocturnal... OMIM:619725
Rett Syndrome, Congenital Variant
Motor stereotypy, Bulbous nose, EEG abnormality, Poor eye contact, Depressed nasal bridge, Hypopl... OMIM:613454
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myocloni... ORPHA:101039
Young-Onset Parkinson Disease
Gait imbalance, Bradykinesia, Hyposmia, Cognitive impairment, Rigidity, Frontal lobe dementia, Tr... ORPHA:2828
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Dysgyria, Type II lissencephaly, Abnormal cerebral white matter morpholo... ORPHA:352682
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Inability to walk, Hyperactivity, Microcephaly, Tremor, Spasti... OMIM:618718
Hereditary Late-Onset Parkinson Disease
Parkinsonism with favorable response to dopaminergic medication, Cerebral cortical atrophy, Glios... ORPHA:411602
Intellectual Developmental Disorder, X-Linked 12
Gliosis, Microcephaly, Hyperkinetic movements, Gait disturbance, Abnormal cerebral white matter m... OMIM:300957
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Microcephaly, Gait disturbance, Tremor, Gener... ORPHA:544254
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Gliosis, Inability to walk, Infantile spasms, Polymicrogyria, Hypoplasia of the corpus ca... ORPHA:79243
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Motor stereotyp... ORPHA:208447
Supranuclear Palsy, Progressive, 1
Frontolimbic dementia, Gait imbalance, Akinesia, Gliosis, Bradykinesia, Cerebral atrophy, Retroco... OMIM:601104
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Poor coordination, Microcepha... OMIM:309548
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus callosum, Wide nose, Pr... ORPHA:89844
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Cerebral atrophy, Myoclonic seizure, Thin corpus callosum, Wide nasal bridge OMIM:619690
Autism, Susceptibility To, 3
Motor stereotypy, EEG abnormality, Impaired ability to form peer relationships, Abnormal nonverba... OMIM:608049
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Appendicular spasticity, Cerebr... OMIM:620001
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Micr... OMIM:619092
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular heterotopia, Ataxia, Hypoplasia of the corpus callosum, Short corpus callosum, Co... ORPHA:255138
Alg11-Cdg
Hypertonia, Ataxia, Gray matter heterotopia, Cerebral atrophy, Opisthotonus, Microcephaly, Limb h... ORPHA:280071
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity DECIPHER:8
Lissencephaly Due To Lis1 Mutation
Focal impaired awareness seizure, Anterior predominant thick cortex pachygyria, Infantile spasms,... ORPHA:95232
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... OMIM:604360
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Positive Romberg sign, Distal sensory impairment, Voca... OMIM:601152
Microhydranencephaly
Poor eye contact, Generalized myoclonic seizure, Microcephaly, Athetosis, Spastic tetraplegia, Pa... OMIM:605013
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Tip-toe gait, Microcephaly, Frequent falls, Abnormal cerebral white matt... ORPHA:370980
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Semantic dementia, Abnormal social behavior, Myocl... ORPHA:1020
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Prominent nasal tip, Hyperactivity, Microcephaly, Cerebral palsy, A... ORPHA:352490
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Abnormal social behavior, Broad nasal tip, Microcephaly,... ORPHA:530983
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Poor eye contact, Seizure OMIM:613886
Spinocerebellar Ataxia 23
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... OMIM:610245
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Ataxia, Long nose, Depressed nasal bridge, Infantile spasms, Short nose, Hyps... OMIM:300912
Fragile X Syndrome
Periventricular heterotopia, Hyperactivity, Poor eye contact, Recurrent hand flapping, Seizure OMIM:300624
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Dysplastic corpus callosum, Inability to walk, Focal impaired awareness seizure, Athetosi... ORPHA:357058
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia, Seizure OMIM:610628
Apnea, Obstructive Sleep
Anosmia, Focal impaired awareness seizure OMIM:107650
Peroxisome Biogenesis Disorder 9B
Ataxia, Anosmia OMIM:614879
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Ataxia, Mental deterioration, Rigidity, Abnormal cerebral white matt... OMIM:618476
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Cognitive impairment, Astrocytosis, Lissencephaly, Generalized non-motor (abse... ORPHA:258
Developmental And Epileptic Encephalopathy 87
Hypertonia, Bulbous nose, Recurrent hand flapping, Cerebral atrophy, Infantile spasms, Prominent ... OMIM:618916
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Hyperactivity, Microcephaly, Gait ataxia, Prominent nasal bridge OMIM:609425
Fraxe Intellectual Disability
Clumsiness, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Prominent nasal b... ORPHA:100973
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Bulbous nose, Cerebral cortical atrophy, Ataxia, Hyperactivity, Microcephaly, S... OMIM:614104
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Pronoun reversal, Wide nose... OMIM:615032
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Large basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Primar... ORPHA:300570
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Abnor... ORPHA:309854
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Inability to walk, Poor eye contact, Generalized myoclonic seizure, Myoclonus, ... OMIM:300672
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Microcephaly, Stereotypical hand wringing, Hypoplasia of the corpus c... OMIM:619179
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Microcephaly, Attention deficit hyperactivity disorder, Seizure, Spastic ataxia OMIM:618906
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Cerebral cortical atrophy, Recurrent hand flapping, Hypoplasia of the corpus callosum, Spasticity... OMIM:618859
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Cerebral cortical atrophy, EEG abnormality, EEG with frontal sharp slow waves, ... ORPHA:457351
Intellectual Developmental Disorder, Autosomal Recessive 13
Recurrent hand flapping, Hyperactivity, Hypoplasia of the corpus callosum, Abnormal cerebral whit... OMIM:613192
Tetrasomy 18P
Microcephaly, Gait disturbance, Short nose, Seizure, Abnormality of neuronal migration ORPHA:3307
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia, Seizure OMIM:244200
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Abnormality of neuronal migration, Hypoplasia of the corpus callosum, Se... OMIM:300049
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Motor stereotypy, Cognitive impairment, Increased theta frequency activity... ORPHA:98784
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Motor stereotypy, Ataxia, Pain insensitivity, Poor eye contact, Inability to ... OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Focal impaired awareness seizure, Hyperactivity, Myocl... OMIM:617600
Xq28 (MECP2) duplication
Motor stereotypy, Inability to walk, Depressed nasal bridge, Microcephaly, Hypoplasia of the corp... DECIPHER:45
Potocki-Lupski Syndrome
Motor stereotypy, Prominent nasal tip, EEG abnormality, Poor eye contact, Hyperactivity, Microcep... OMIM:610883
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Microcephaly, Anteverted nares, Wide nose, Spasticity, Seizure, Thin cor... OMIM:619694
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Status epilepticus, Motor stereotypy, Cerebral cortical atrophy, Inability to walk, Cerebral atro... OMIM:617802
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration, Abnormal nasal bridge morphology, Seizure OMIM:614887
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Nonprogressive cerebellar ataxia, Babinski sign, Truncal... ORPHA:453521
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Microcephaly, Short nose, Short nasal septum, Anosmia OMIM:302950
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Cleft ala nasi, Hypoplasia of the corpus callosum, Seizure, Agenesis of ... OMIM:164180
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Depressed nasal bridge, Hypoplasia of the corpus callosum, Attention... OMIM:618974
Radio-Tartaglia Syndrome
Motor stereotypy, Gait imbalance, Bulbous nose, Gray matter heterotopia, Prominent nasal tip, Ata... OMIM:619312
Intellectual Developmental Disorder, Autosomal Dominant 51
Febrile seizure outside the age of 3 months to 6 years, Hand-leading gestures, Recurrent hand fla... OMIM:617788
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Poor eye contact, Microcephaly, Difficulty walking, Gait ataxia, Spasticity, Un... OMIM:617807
Christianson Syndrome
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Truncal ataxia, Abnormality of the nos... ORPHA:85278
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Leukoencephalopathy, Hypertonia, Cerebral cortical atrophy, Gray matter heterotopia, Focal impair... OMIM:620024
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Broad nasal tip, Short nose, Speech apraxia, Attention deficit hyperactivity di... OMIM:613670
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Bulbous nose, EEG abnormality, Recurrent hand flapping, Cerebral atrophy, Depressed nasal bridge,... OMIM:617268
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Clonic seizure, Recurrent hand flapping, Focal impaired awareness seizu... OMIM:619580
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Pain insensitivity, Low hanging columella, Attention deficit hyperactivity diso... OMIM:618825
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Bradykinesia, Hypoplasia of the corpus callosum,... OMIM:614924
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia, Agenesis of corpus callosum, Hyposmia OMIM:147950
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Cerebral atrophy, Myoclonus, Microcephaly, Parkinson... OMIM:618877
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Progressive neu... OMIM:252650
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia, Broad nasal tip, Bifid nose, Hypopl... OMIM:603671
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tetraparesis, Sho... ORPHA:85277
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity, Low hanging columella, Microcephaly, Polymicrogyria, Hypoplasia ... OMIM:617751
Cockayne Syndrome Type 3
Basal ganglia calcification, Cognitive impairment, Intention tremor, Narrow nose, Subcortical whi... ORPHA:90324
Joubert Syndrome
Ataxia, Polymicrogyria, Gait disturbance, Tremor, Anteverted nares, Seizure, Abnormality of neuro... ORPHA:475
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Gliosis, Microcephaly, Hyperkinetic movements, Gait disturbance, Tremor, Bilate... ORPHA:457240
Refsum Disease, Classic
Somatic sensory dysfunction, Ataxia, Anosmia OMIM:266500
Shukla-Vernon Syndrome
Broad-based gait, Motor stereotypy, Attention deficit hyperactivity disorder, Seizure, Wide nasal... OMIM:301029
Gorlin Syndrome
Cerebral calcification, Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Bilateral Perisylvian Polymicrogyria
Paraparesis, Limb hypertonia, Infantile spasms, Oromotor apraxia, Spasticity, Abnormality of neur... ORPHA:98889
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration, Microcephaly, Congenital intracerebral calcification OMIM:236795
Hydrolethalus
Absent septum pellucidum, Abnormality of the sense of smell, Anencephaly, Arrhinencephaly, Agenes... ORPHA:2189
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Bulbous nose, Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly,... OMIM:619103
Lissencephaly, X-Linked, 2
Gliosis, Lissencephaly, Spasticity, Seizure, Pachygyria, Prominent nasal bridge, Agenesis of corp... OMIM:300215
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Neonatal Adrenoleukodystrophy
EEG abnormality, Anteverted nares, Seizure, Abnormality of neuronal migration, Wide nasal bridge ORPHA:44
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Cerebral dysmyelination, Absent brainstem auditory responses, Ataxia, Cerebral atrop... OMIM:609136
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Pain insensitivity, Hypoesthesia, Impaired vibratory sensation, Hyposmia, Impaired proprioception... OMIM:616488
Septo-Optic Dysplasia Spectrum
Hemiplegia/hemiparesis, Absent septum pellucidum, Agenesis of corpus callosum, Septo-optic dyspla... ORPHA:3157
Leber Congenital Amaurosis
Abnormality of neuronal migration, Hemiplegia/hemiparesis, Seizure ORPHA:65
Kallmann Syndrome
Ataxia, Hyposmia, Gait disturbance, Tremor, Paraplegia, Seizure, Anosmia ORPHA:478
Bardet-Biedl Syndrome 17
Hyposmia, Poor coordination, Anosmia, Cognitive impairment OMIM:615994
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Babinski sign, Abnormal periventricular white matt... OMIM:608840
Microphthalmia-Brain Atrophy Syndrome
Generalized myoclonic seizure, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Diffuse c... ORPHA:77299
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Recurrent hand flapping, Hyperactivity... ORPHA:98794
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Bulbous nose, Cerebral atrophy, Hypoplasia of th... OMIM:616900
Desmosterolosis
Status epilepticus, Hypertonia, Macrogyria, Depressed nasal bridge, Microcephaly, Rigidity, Agene... ORPHA:35107
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Pachygyria, Agenesis of c... ORPHA:2512
Edinburgh Malformation Syndrome
Hypertonia, Anteverted nares, Short nose, Choanal atresia, Seizure, Abnormality of neuronal migra... ORPHA:1895
Childhood Absence Epilepsy
Typical absence seizure, Abnormal social behavior, Limb myoclonus, Febrile seizure (within the ag... ORPHA:64280
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614838
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Broad nasal tip, Depressed nasal bridge, Infantile spasms, Polymicrogyri... OMIM:619777
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Anosmia, Distal sensory impairment, Hyposmia OMIM:608720
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal ... ORPHA:309271
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Microcephaly, Prominent nose, Hyperactivity OMIM:615541
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Short nose, Seizur... ORPHA:228384
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Cognitive impairment, Hyposmia, Mic... ORPHA:2162
Refsum Disease
Ataxia, Abnormal pyramidal sign, Hemiplegia/hemiparesis, Anosmia ORPHA:773
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, ... ORPHA:98795
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Hypertonia, Cerebral cortical atrophy, Microcephaly, Anteverted nares, Seizure, Abnormality of ne... ORPHA:2518
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Anencephaly, Cortical dysplasia, Type II lissencephaly, Spasticity, Seiz... OMIM:615287
Galloway-Mowat Syndrome
Hypertonia, EEG abnormality, Hemiplegia/hemiparesis, Cognitive impairment, Microcephaly, Seizure,... ORPHA:2065
Rett Syndrome
Cerebral cortical atrophy, EEG abnormality, Gait apraxia, Truncal ataxia, Stereotypical hand wrin... OMIM:312750
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnormal ... ORPHA:309263
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Hypomelanosis Of Ito
Microcephaly, Gray matter heterotopia, Cerebral atrophy, Seizure OMIM:300337
Pick Disease Of Brain
Motor stereotypy, Gliosis, Frontotemporal dementia OMIM:172700
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Focal impaired awareness seizure, Stereotypical hand wringing, Short nose, Bilateral ... OMIM:619854
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy, Low hanging columella, Microcephaly, Polymicrogyria, Hypoplasia of the corpus c... ORPHA:500159
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell, Microcephaly ORPHA:3201
Angelman Syndrome
Status epilepticus, Atypical absence seizure, Cerebral dysmyelination, Atonic seizure, Cerebral c... ORPHA:72
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Recurrent hand flapping, Poor coordination OMIM:619717
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, Ataxia, Inability to walk, Tremor, Focal myoclonic seizure, Spasticity, Hypsa... OMIM:619229
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Motor stereotypy, Anteverted nares, Wide nose, Recurrent bronchitis, Attention ... OMIM:619293
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Broad nasal tip, Bilateral tonic-clonic seizure, Generalized-onset seizure, Gen... OMIM:615637
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
EEG abnormality, Broad nasal tip, Recurrent upper respiratory tract infections, Oromotor apraxia,... ORPHA:391372
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Perisylvian polymicrogyria, Motor stereotypy, Dysmetria, Microcephaly, Babinski sign, Truncal ata... OMIM:619121
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hair-pulling, Hyperactivity, Depressed nasal bridge, Infantile spas... ORPHA:447997
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:615516
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Depressed nasal bridge, Microcephaly, Seizure, Colpocephaly, Agenesis... OMIM:619955
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping, Seizure OMIM:620021
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cereb... ORPHA:488627
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Speech apraxia, Prominent nose, Unsteady gait, Wide nasal bridge OMIM:618205
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Rett Syndrome
Motor stereotypy, EEG abnormality, Bradykinesia, Inability to walk, Stereotypical hand wringing, ... ORPHA:778
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Hyperactivity, Seizure, Impaired pain sensation, Wide nasal br... OMIM:182290
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Broad-based gait, Microcephaly, Hypoplasia of the corpus callosum, ... OMIM:300352
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Musk, Inability To Smell
Anosmia OMIM:254150
Kallmann Syndrome With Spastic Paraplegia
Spastic paraplegia, Ataxia, Anosmia OMIM:308750
Meningioma
Ataxia, Cognitive impairment, Abnormality of the sense of smell, Hemiparesis, Memory impairment, ... ORPHA:2495
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Decreased nerve conduction velocity, Tip-toe gait, Abnormal social behavior, Decerebr... ORPHA:309256
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Johnson Neuroectodermal Syndrome
Microcephaly, Bulbous nose, Choanal atresia, Anosmia ORPHA:2316
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Hyperactivity, Microcephaly, Tremor, Attention deficit hyperactivity disorder, ... OMIM:618342
Joubert Syndrome With Oculorenal Defect
Ataxia, Anteverted nares, Seizure, Abnormality of neuronal migration, Prominent nasal bridge, Apl... ORPHA:2318
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Microcephaly, Seizure ORPHA:228402
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Microcephaly, Abnormal pyramidal sign, Polymicrogyria, Type II lissencep... ORPHA:370959
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Depressed nasal bridge, Seizure, Cognitive impairment ORPHA:93274
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Attention deficit hyperactivity disorder, Hyperactivity, Seizure OMIM:618504
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Poor eye contact, Recurrent hand flapping, Hyperactivity, Attention deficit hyp... ORPHA:449291
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping, Low hanging columella, Gait distur... OMIM:300986
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Ataxia, Anosmia, Hyposmia OMIM:308700
Vici Syndrome
Gray matter heterotopia, Cerebral cortical atrophy, EEG abnormality, Depressed nasal tip, Seizure... ORPHA:1493
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Recurrent hand flapping, Cessation of ... ORPHA:411511
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Cognitive impairment, Microcephaly, Paraplegia, Seizure ORPHA:927
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Walker-Warburg Syndrome
Macrogyria, Microcephaly, Agenesis of corpus callosum, Abnormal cortical gyration, Polymicrogyria... ORPHA:899
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Microcephaly, Pyriform aperture stenosis, Choanal atresia, Midna... OMIM:147250
Wilson Disease
Parkinsonism with favorable response to dopaminergic medication, Hypoesthesia, Decreased nerve co... OMIM:277900
Man1B1-Cdg
Broad-based gait, Periventricular heterotopia, Resting tremor, Underdeveloped nasolabial fold, Wi... ORPHA:397941
4Q21 Microdeletion Syndrome
Motor stereotypy, Depressed nasal bridge, Tremor, Seizure, Agenesis of corpus callosum ORPHA:238750
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Bulbous nose, Gray matter heterotopia, Lissencephaly, Seizure, Simplified gyral pattern, Colpocep... OMIM:615219
16P13.11 Microdeletion Syndrome
Hypertonia, EEG abnormality, Depressed nasal bridge, Microcephaly, Short nose, Anteverted nares, ... ORPHA:261236
Johnson Neuroectodermal Syndrome
Microcephaly, Anosmia, Choanal stenosis OMIM:147770
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Microcephaly ORPHA:2204
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Bulbous nose, Cerebral cortical atrophy, Ataxia, Dysmetria, Abnormal social behavior, Intention t... ORPHA:314647
Amoebiasis Due To Free-Living Amoebae
Abnormal basal ganglia morphology, Ataxia, Hyposmia, Encephalomalacia, Hemiparesis, Abnormal cere... ORPHA:68
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking, Seizure, Wide nasal ridge, Aplasia/Hypoplasia of the... ORPHA:531151
Bainbridge-Ropers Syndrome
Hypertonia, Bulbous nose, Inability to walk, Recurrent hand flapping, Low hanging columella, Long... ORPHA:352577
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Depressed nasal bridge, Microcephaly, Gait disturbance, Short ... ORPHA:819
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Gliosis, Progressive language deterioration, Parkinsonism, Memory impa... OMIM:607485
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Frontotemporal dementia, Spasticity OMIM:612069
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Coffin-Siris Syndrome 6
Motor stereotypy, Broad nasal tip, Depressed nasal bridge, Tics, Attention deficit hyperactivity ... OMIM:617808
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Wide nose, Underdeveloped nasal alae, Aplasia/Hypoplasia of th... ORPHA:284160
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Prominent nasal tip, EEG with spike-wave complexes, Po... ORPHA:522077
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity, Broad nasal tip, Microcephaly, Seizure ORPHA:3306
D-Glyceric Aciduria
Status epilepticus, Cerebral cortical atrophy, Opisthotonus, Focal clonic seizure, Myoclonus, Mic... OMIM:220120
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis, Bilateral tonic-clonic seizure, Focal-onset seizure,... OMIM:619435
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Generalized myoclonic seizure, Depressed nasal bridge, Cerebral white m... ORPHA:435638
Phelan-Mcdermid Syndrome
Motor stereotypy, Broad-based gait, Bulbous nose, Poor eye contact, Microcephaly, Tongue thrustin... OMIM:606232
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Cavum septum pellucidum, Microcephaly, Infantile spasms, Epileptic spasm... OMIM:247200
Galloway-Mowat Syndrome 6
Anteverted nares, Microcephaly, Motor stereotypy, Seizure OMIM:618347
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Cerebral atrophy, Depressed nasal bridge, Infantile spasms, Hypoplasia o... OMIM:618797
Neurocutaneous Melanocytosis
Abnormality of neuronal migration, EEG abnormality, Hemiparesis, Seizure ORPHA:2481
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy, Bulbous nose, Depressed nasal bridge, Microcephaly, Short nose, Seizure, Agenes... ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Motor stereotypy, Bilateral tonic-clonic seizure, Anteverted nares, Secondary m... OMIM:616351
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormality of the nares, Short nose, Anosmia ORPHA:1295
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Polymicrogyria, Hypoplasia of the corpus callosum, Spasticity, Simpl... ORPHA:468631
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Depressed nasal ridge OMIM:601016
Intellectual Developmental Disorder, Autosomal Dominant 64
Hypertonia, Bulbous nose, Periventricular nodular heterotopia, Microcephaly, Depressed nasal brid... OMIM:619188
Even-Plus Syndrome
Dysplastic corpus callosum, Depressed nasal ridge, Bifid nasal tip, Short nose, Agenesis of corpu... OMIM:616854
Poretti-Boltshauser Syndrome
Oculomotor apraxia, Gray matter heterotopia, Abnormal periventricular white matter morphology OMIM:615960
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Bulbous nose, Seizure, Agenesis of corpus callosum, Wide nasal bridge OMIM:613174
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebr... ORPHA:391307
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Gray matter heterotopia, Dysmetria, Abnormality of neuronal migratio... ORPHA:75857
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Short nasal bridge, Attention deficit hyperactivity disorder, ... ORPHA:401777
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Bulbous nose, Pain insensitivity, Depressed nasal bridge, Microcephaly, Tremor,... OMIM:617061
Congenital Hypothyroidism
Paresthesia, Anosmia, Depressed nasal ridge ORPHA:442
Chiari Malformation Type Ii
Ataxia, Gray matter heterotopia, Agenesis of corpus callosum, Opisthotonus OMIM:207950
Periventricular Nodular Heterotopia 9
Broad-based gait, Gray matter heterotopia, Periventricular nodular heterotopia, Microcephaly, Pol... OMIM:618918
Joubert Syndrome With Hepatic Defect
Ataxia, Gait disturbance, Tremor, Anteverted nares, Seizure, Abnormality of neuronal migration, O... ORPHA:1454
Pyruvate Carboxylase Deficiency
Ataxia, Poor eye contact, Recurrent hand flapping, Cerebellar gliosis, Tip-toe gait, Abnormal pyr... ORPHA:3008
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Thin corpus cal... OMIM:619775
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Tremor, Attention deficit hyperactivity disorder, Seizure ORPHA:10
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Bulbous nose, Dysplastic corpus callosum, Non-convulsive status epilepticu... ORPHA:544488
Coffin-Lowry Syndrome
Hypertonia, Cerebral cortical atrophy, Depressed nasal bridge, Microcephaly, Progressive spastici... ORPHA:192
Joubert Syndrome 30
Gray matter heterotopia, Seizure OMIM:617622
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Depressed nasal bridge, Short nose, Lissencephaly, Seizure, Anteverted n... OMIM:617822
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Hyperactivity, Depressed nasal bridge, Microcephaly, Seizure, Anteverted nares,... OMIM:617796
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Hyperactivity, Long nose, Gait ataxia, Prominent nose, Spasticity, Seizure OMIM:300486
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Speech apraxia, Choreoathetosis, Attention deficit hyperactivity disorder, Seiz... ORPHA:261197
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Motor stereotypy, Microcephaly, Gait ataxia, Incoordination, Impaired pain sens... OMIM:616579
White-Sutton Syndrome
Overfriendliness, Motor stereotypy, Hyperactivity, Cerebral atrophy, Focal impaired awareness sei... OMIM:616364
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Wide nasal bridge, EEG with generalized slow activity, Seizure ORPHA:397612
Choreoacanthocytosis
Frontal cortical atrophy, Mental deterioration, Chorea, Falls, Slurred speech, Bradyphrenia, Hype... ORPHA:2388
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
8P11.2 Deletion Syndrome
Depressed nasal bridge, Microcephaly, Anosmia, Seizure ORPHA:251066
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration, Seizure, Cognitive impairment ORPHA:2063
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Microcephaly ORPHA:2772
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Cerebral atrophy, Depressed nasal bridge, Microcephaly, Babinski si... OMIM:615802
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular heterotopia, Ataxia, Colpocephaly, Depressed nasal bridge, Microcephaly, Cerebral... OMIM:619833
22Q11.2 Duplication Syndrome
Motor stereotypy, Depressed nasal ridge, Microcephaly, Wide nose, Attention deficit hyperactivity... ORPHA:1727
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Recurrent hand flapping, Broad nasal tip, Microcephaly, Depressed nasal bridge, Trem... OMIM:619680
Cerebrofacioarticular Syndrome
Ataxia, Gray matter heterotopia, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corp... ORPHA:314679
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Cataplexy, Generalized tonic seizure, Hypopl... ORPHA:496641
Arnold-Chiari Malformation Type Ii
Paraparesis, Ataxia, Opisthotonus, Cortical dysplasia, Polymicrogyria, Partial agenesis of the co... ORPHA:1136
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Spasticity, Seizure, Anteverted nares, Wide nasal bridge OMIM:618810
Thanatophoric Dysplasia
Depressed nasal bridge, Gray matter heterotopia, Seizure ORPHA:2655
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Focal impaired awareness seizure, Depressed nasal bridge, Infantile ... OMIM:618929
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Hyperactivity, Broad nasal tip, Short nose, Seizure, Anteverted nares, Wide nas... OMIM:615873
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Microcephaly, Seizure, Wide nasal bridge ORPHA:2479
Orofaciodigital Syndrome Xvi
Ataxia, Gray matter heterotopia, Inability to walk, Depressed nasal bridge, Oculomotor apraxia OMIM:617563
Acalvaria
Abnormality of neuronal migration ORPHA:945
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Cerebral atrophy, Generalized tonic seizure, Depressed nasal bridge, Mi... OMIM:616393
Cri-Du-Chat Syndrome
Overfriendliness, Hypertonia, Motor stereotypy, Hyperactivity, Microcephaly, Difficulty walking, ... OMIM:123450
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Cavum septum pellucidum, Abnormal cerebral white matter morphology, Lat... ORPHA:457279
Orofaciodigital Syndrome Type 6
Ataxia, Broad nasal tip, Gait disturbance, Tremor, Seizure, Abnormality of neuronal migration, Pr... ORPHA:2754
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Attention deficit hyperactivity disorder, Seizure ORPHA:313892
Nmda Receptor Encephalitis
Status epilepticus, Motor stereotypy, Opisthotonus, Myoclonus, No social interaction, Rigidity, M... ORPHA:217253
Intellectual Developmental Disorder, Autosomal Dominant 1
Bulbous nose, Ataxia, Poor eye contact, Recurrent hand flapping, Depressed nasal ridge, Hypoplasi... OMIM:156200
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Depressed nasal bridge, Broad columella, ... ORPHA:557003
Coffin-Siris Syndrome 7
Motor stereotypy, Convex nasal ridge, Hyperactivity, Depressed nasal bridge, Wide nose, Thick nas... OMIM:618027
Niemann-Pick Disease Type C
Status epilepticus, Ataxia, Cataplexy, Frontal cortical atrophy, Abnormal social behavior, Mental... ORPHA:646
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Carnitine Palmitoyltransferase Ii Deficiency
Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Seizure, Abnormality o... ORPHA:157
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly, Spasticity, Seizure OMIM:619423
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Bulbous nose, Basal ganglia cysts, Microcephaly, Polymicrogyria, Nasal congestion, Seizure, Abnor... OMIM:608836
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypertonia, Microcephaly, Dysplastic corpus callosum, Prominent nasal bridge OMIM:604273
Intellectual Developmental Disorder, Autosomal Dominant 22
Long nose, Microcephaly, Depressed nasal bridge, Stereotypical hand wringing, Generalized non-mot... OMIM:612337
Distal Xq28 Microduplication Syndrome
Poor eye contact, Stereotypical body rocking, Tip-toe gait, Broad nasal tip, Microcephaly, Recurr... ORPHA:293939
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Decreased nerve conduction velocity, Infantile spasms, Decreased amp... OMIM:618733
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bulbous nose, Ataxia, Isometric tremor, Depressed nasal tip, Infantile spasms, Falls, Short nose,... OMIM:619475
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Hyposmia, Microcephaly, Hypoplasia of the corpus callosum, Difficulty walking OMIM:618653
White-Sutton Syndrome
Motor stereotypy, Cerebral cortical atrophy, EEG abnormality, Focal impaired awareness seizure, H... ORPHA:468678
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Recurrent hand flapping, Broad nasal tip, Microc... OMIM:615485
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Status epilepticus, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, ... OMIM:618569
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis OMIM:244400
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Kapur-Toriello Syndrome
Bulbous nose, Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Broad-based gait, Prominent nasal tip, Stereotypical body rocking, Depressed na... ORPHA:513456
Alazami Syndrome
Motor stereotypy, Wide nose, Stereotypical hand wringing, Seizure ORPHA:319671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Gray matter heterotopia, Polymicrogyria, Hypoplasia of the corpus callosum, Type II lissencephaly... OMIM:614643
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Myoclonus, Limb hypertonia, Babinski si... OMIM:608643
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Neurofibrillary tangles, Spasticity, Seizure, Dementia OMIM:607625
Neu-Laxova Syndrome
Depressed nasal ridge, Opisthotonus, Cerebral calcification, Macrogyria, Microcephaly, Abnormal c... ORPHA:2671
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Depressed nasal bridge, Short nose, Attention deficit hyperact... OMIM:619005
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Tremor, Short nose, Gait ataxia, Primary microcephaly, Attention deficit hypera... ORPHA:476126
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Poor eye contact, Cerebral atrophy, Depressed nasal bridge, Microcephaly, Unila... OMIM:301030
2Q37 Microdeletion Syndrome
Motor stereotypy, Depressed nasal bridge, Microcephaly, Broad columella, Attention deficit hypera... ORPHA:1001
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal basal ganglia morphology, Cerebral calcification, Polymicrogyria, Seizure, Abnormality o... ORPHA:228308
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Cerebral calcification, Microcephaly, Polymicrogyria, Seizure OMIM:617397
Periventricular Nodular Heterotopia
Periventricular heterotopia, Focal-onset seizure ORPHA:98892
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus callosum, Sim... ORPHA:464311
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia, Prominent nasal tip, Convex nasal ridge, Depressed nasal bridge, Att... OMIM:618870
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, EEG abnormality, Poor eye contact, Microcephaly, Infantile spasms, ... OMIM:301044
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Depressed nasal ridge, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of ... ORPHA:2211
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Bulbous nose, Inability to walk, Opisthotonus, Long nose, Microceph... ORPHA:508533
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Gray matter heterotopia, Inability to walk, Depressed nasal bridge, Seizure ORPHA:26791
Pitt-Hopkins Syndrome
Flared nostrils, Motor stereotypy, Microcephaly, Hypoplasia of the corpus callosum, Gait ataxia, ... OMIM:610954
Bohring-Opitz Syndrome
Gray matter heterotopia, Depressed nasal bridge, Microcephaly, Hypoplasia of the corpus callosum,... OMIM:605039
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia, Seizure ORPHA:529965
Holoprosencephaly 14
Periventricular heterotopia, EEG abnormality, Gray matter heterotopia, Microcephaly, Partial agen... OMIM:619895
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Flared nostrils, Motor stereotypy, Bulbous nose, Cerebral cortical atrophy, Ataxia, Poor gross mo... OMIM:614756
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Cerebral cortical atrophy, Abnormal social behavior, Broad nasal tip, Microceph... ORPHA:177907
7Q11.23 Microduplication Syndrome
Motor stereotypy, Hyperactivity, Dysmetria, Abnormality of the columella, Broad nasal tip, Unstea... ORPHA:96121
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617044
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
Ichthyosis And Male Hypogonadism
Anosmia, Seizure OMIM:308200
Peroxisome Biogenesis Disorder 1A (Zellweger)
Loss of ambulation, Cerebral cortical atrophy, Gray matter heterotopia, Polymicrogyria, Frequent ... OMIM:214100
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Hypertonia, Low hanging columella, Microcephaly, Unsteady gait, Seizure, Promin... OMIM:212066
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Repetitive compulsive behavior, Seizure, Lower limb spasticity, Bilateral ... ORPHA:66634
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Hyposmia ORPHA:2250
21Q22.11Q22.12 Microdeletion Syndrome
Bulbous nose, Hyperactivity, Stereotypical body rocking, Microcephaly, Tongue thrusting, Seizure,... ORPHA:261323
Van Maldergem Syndrome 1
Gray matter heterotopia, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, ... OMIM:601390
Nijmegen Breakage Syndrome
Convex nasal ridge, Glioma, Mental deterioration, Depressed nasal bridge, Microcephaly, Prominent... ORPHA:647
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Bulbous nose, Hyperactivity, Tonic seizure, Low hanging columella, Microcephaly... OMIM:619512
Waardenburg Syndrome, Type 2E
Hypertonia, Anosmia OMIM:611584
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
3C Syndrome
Abnormality of neuronal migration, Depressed nasal bridge, Short nose, Wide nasal bridge ORPHA:7
Wiedemann-Steiner Syndrome
Motor stereotypy, Hyperactivity, Microcephaly, Short nose, Psychomotor deterioration, Seizure, Wi... ORPHA:319182
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Pleomorphic xanthoastrocytoma, Astrocytoma, Ependymoma, Glioblastoma mul... OMIM:276300
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Gray matter heterotopia, Seizure ORPHA:1860
Koolen-De Vries Syndrome
Bulbous nose, Gray matter heterotopia, Hyperactivity, Microcephaly, Hypoplasia of the corpus call... OMIM:610443
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria,... OMIM:618820
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Broad-based gait, Ataxia, Pain insensitivity, Dysmetria, Broad nasal tip, Micro... OMIM:617330
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Prominent nose, Choanal atresia... OMIM:305450
Occipital Horn Syndrome