Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nuclear receptor subfamily 4, group A, member 3
Synonyms:
Nor1,  TEC,  NOR-1,  MINOR

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Nr4a3 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 Nr4a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Chondrosarcoma, Extraskeletal Myxoid
OMIM:612237

The table below shows human diseases predicted to be associated to Nr4a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Absent septum pellucidum, Hypoplastic hippocampus, Microcephaly, Spasticity, Dy... ORPHA:101685
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Spastic tetraparesis, Schizencephaly, Hyperactivity, Gray ma... OMIM:604317
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Generalized-onset seizure, Hyperintensity of cerebral white matter on... ORPHA:65683
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Progressive microcephaly, Spastic tetraplegia, Hyperactivity, Microcephaly, Hyp... OMIM:616657
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Attention deficit hyperactivity disorder, Perisylvian polymicrogyria, Bilateral... OMIM:619605
Dravet Syndrome
Cerebral atrophy, Myoclonic seizure, Abnormal pyramidal sign, Atonic seizure, Focal hemiclonic se... OMIM:607208
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebral atrophy, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure,... OMIM:611726
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Abnormal cerebra... OMIM:618587
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Thick cerebral cortex, Hemiparesis, Cortical ... ORPHA:101071
Yoon-Bellen Neurodevelopmental Syndrome
Cerebral atrophy, Hearing impairment, Ataxia, Microcephaly, Generalized myoclonic-atonic seizure,... OMIM:619701
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with vestibular features, Focal sensory seizure with cephalic sensation, De... OMIM:600512
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Primary mic... OMIM:245570
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Microcephaly, Spasticity, Cortical dysplasia, Focal impaired awareness seizure, Bilateral tonic-c... ORPHA:208441
Episodic Ataxia, Type 9
Episodic ataxia, Tonic seizure, Vertigo, Paroxysmal vertigo, Bilateral tonic-clonic seizure, Clon... OMIM:618924
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Epilept... ORPHA:178469
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ataxia, Microcephaly, Cortical dysplasia, Hydrocephalus, Sei... OMIM:618709
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Spastic tetraplegia, Focal-onset seizure, Partial agenesis of the co... OMIM:619302
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Hearing impairment, Status epilepticus, Microcephaly, Bilateral tonic-clonic sei... OMIM:609056
Microlissencephaly
Cerebral dysmyelination, Subcortical heterotopia, Periventricular heterotopia, Microcephaly, Liss... ORPHA:1083
Microcephaly, Seizures, And Developmental Delay
Progressive microcephaly, Hyperactivity, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplas... OMIM:613402
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure, Polymicrogyria, Pachygyria OMIM:614115
Familial Focal Epilepsy With Variable Foci
Deja vu aura, Focal cortical dysplasia, Focal-onset seizure, Focal aware seizure, Hemimegalenceph... ORPHA:98820
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Atonic seizure, Generalized-onset seizure, Generalized cerebral atrophy/hypoplasi... ORPHA:36387
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Spastic tetraplegia, Microcephaly, Lissencephaly, Pachygyria, Polymicrogyria, H... OMIM:618730
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Ataxia, Status epilepticus ORPHA:22
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, Generalized-onset seizure, Motor stereotypy, Hyperactivity, Focal-onset seizure... ORPHA:88616
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure... OMIM:615400
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Action tremor, Parkinsonism, Thin corpus callosum, Apraxia, Bradykinesia, Rigid... OMIM:300423
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Choreoathetosis, Myoclonic absence se... OMIM:619317
Brain Small Vessel Disease 2
Subcortical heterotopia, Spastic tetraplegia, Schizencephaly, Porencephalic cyst, Focal-onset sei... OMIM:614483
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Clumsiness, Cerebral atrophy, Bilateral tonic-clonic seizure OMIM:610003
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Perisylvian polymicrogyria, Hypoplasti... OMIM:619606
Bilateral Generalized Polymicrogyria
Motor stereotypy, Abnormal hippocampus morphology, Typical absence seizure, Microcephaly, Dilatio... ORPHA:208447
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Spastic tetraplegia, Focal-onset seizure, Simplified gyral pattern, ... OMIM:619301
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure, Polymicrogyria, Pseudobulbar paralysis OMIM:300388
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Torticollis, Bilateral tonic-clonic seizure, Hyperkinetic movements, Tremor OMIM:618425
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Stereotypical hand wringing, Bilateral tonic-clonic sei... OMIM:616056
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Tremor, Ataxia, Gait ataxia, Generalized non-motor (absence) seizu... OMIM:617831
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Tetraplegia, Bilateral tonic-clonic ... OMIM:104290
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Seizure, Attention deficit hyperactivity disorder OMIM:617600
Lissencephaly 10
Agyria, Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-o... OMIM:618873
Foxg1 Syndrome
Abnormal corpus callosum morphology, Progressive microcephaly, Agenesis of corpus callosum, Chore... ORPHA:561854
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Corti... OMIM:608716
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Resting tremor, Intention tremor, Dilated third ventricle, Bradykinesia, Ataxia, Co... OMIM:619725
Landau-Kleffner Syndrome
Attention deficit hyperactivity disorder, Atypical absence seizure, Frequent falls, Hyperactivity... ORPHA:98818
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Tremor OMIM:615127
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypertonia, Low-set ears, Microcephaly, Spasticity, Posteriorly rotated ears, Hypoplasia of the c... OMIM:616281
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Developmental And Epileptic Encephalopathy 34
Cerebral atrophy, Abnormal pyramidal sign, Focal hemiclonic seizure, Bilateral tonic-clonic seizu... OMIM:616645
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Tonic seizure, Progressive microcephaly, Stereotypical hand wringing, Focal-ons... OMIM:618917
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:619639
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Microcephaly, Macrotia, Hydrocephalus, Bilateral tonic-clonic seizure, Clumsiness,... OMIM:300558
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity dis... OMIM:619191
Alpers-Huttenlocher Syndrome
Choreoathetosis, Spastic paraparesis, Focal-onset seizure, Ataxia, Microcephaly, Paraparesis, Spa... ORPHA:726
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Microcephaly, Simplified gyral pattern, Periventricular whit... OMIM:619470
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Cerebral atrophy, Chin myoclonus, Aplasia/Hypoplasia of the cor... ORPHA:263516
Benign Familial Infantile Epilepsy
Hypertonia, Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic se... ORPHA:306
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Episodic Ataxia, Type 5
Atypical absence seizure, Vertigo, Ataxia, Typical absence seizure, Febrile seizure (within the a... OMIM:613855
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Cerebral atrophy, Dysmetria, Intention tremor, Sensorineural hearing impairment, Ataxia, Microcep... OMIM:618170
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Upper limb spasticity, Abnormal cerebral white matter morpholo... ORPHA:485350
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Bilateral tonic-clonic sei... ORPHA:250972
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure, Pachygyria OMIM:600176
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Focal-ons... ORPHA:2382
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure, Low-set ears ORPHA:436151
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Poor hand-eye coordination, F... ORPHA:86909
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Hyperactivity, Ataxia, Spasticity, Seizu... OMIM:615924
Epilepsy, Familial Temporal Lobe, 5
Focal impaired awareness seizure, Visually-induced seizure, Focal aware seizure, Bilateral tonic-... OMIM:614417
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Microcephaly, Generalized non-motor (absence) seizure, Bilateral tonic-cloni... OMIM:619157
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity, Seizure, Sensorineural hearing impairment OMIM:609924
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Progressive microcephaly OMIM:608443
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Blepharospasm, Abnormal hippocampus morphology, Generalized ... ORPHA:352582
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure, Status epilepticus OMIM:613721
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Spastic tetraplegia, Focal-onset seizure, Microcephaly, Spastic hemiparesis, S... OMIM:619616
Sulfite Oxidase Deficiency, Isolated
Cerebral atrophy, Choreoathetosis, Hyperintensity of cerebral white matter on MRI, Ataxia, Microc... OMIM:272300
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Seizure OMIM:615493
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Cerebral atrophy, Sensorineural hearing impairment, Generalized m... ORPHA:464282
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Generalized myoclonic seizure, Tremor, Focal-onset seizure, Diffuse cerebral atrophy, Focal impai... ORPHA:330050
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Stereotypical hand wringing, Focal-onset seizure, Febrile seizure (within the age ran... ORPHA:289266
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Bilateral tonic-clonic seizure, Cortical dysplasia OMIM:608278
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Seizure, Ataxia OMIM:617113
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Speech apraxia, Hypoplasia ... ORPHA:163721
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Generalized myoclonic seizure, Rigidity, Hypoplasia of the corpus callo... OMIM:618090
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Atonic seizure, High-fr... ORPHA:2590
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Hypointensity of cerebral white matter on MRI, Seizure precipitated by f... ORPHA:363549
Rasmussen Subacute Encephalitis
Attention deficit hyperactivity disorder, Cerebral cortical hemiatrophy, Focal sensory seizure wi... ORPHA:1929
Epilepsy, Familial Temporal Lobe, 8
Deja vu aura, Focal aware cognitive seizure with forced thinking, Bilateral tonic-clonic seizure ... OMIM:616461
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Seizure ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure OMIM:300271
Infantile Cerebellar-Retinal Degeneration
Progressive microcephaly, Sensorineural hearing impairment, Athetosis, Focal-onset seizure, Ataxi... OMIM:614559
Unilateral Focal Polymicrogyria
Cerebral cortical hemiatrophy, Bilateral tonic-clonic seizure with focal onset, Spastic hemipares... ORPHA:268947
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Spastic paraplegia, Postural tremor, Bilater... ORPHA:100988
Severe Canavan Disease
Cerebral white matter atrophy, Spasticity, Megalencephaly, Decerebrate rigidity, Bilateral tonic-... ORPHA:314911
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Paresthesia,... ORPHA:53583
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Hyperactivity, Generalized myo... ORPHA:101039
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure, Hypertonia OMIM:269720
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Bilateral tonic-clonic seizure, Seizure OMIM:608762
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Progressive microcephaly, Stereotypical hand wringing, Macrotia, Seizure, Hyperkinetic movements ORPHA:397933
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus callosum, Bilateral ... ORPHA:488635
Guanidinoacetate Methyltransferase Deficiency
Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Athetosis, Ataxia, Progressive extr... ORPHA:382
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Stereotypical hand wringing, Focal-onset seizure, Chorea, Hypoplas... OMIM:618760
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Paroxysmal dyskinesia, Chorea, Bilateral tonic-clonic seizure, General... ORPHA:79137
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Seizure OMIM:617796
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bradykinesia, Ataxia, Rigidity, Bilater... OMIM:617836
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Tremor OMIM:613608
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Myoclonus OMIM:616230
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure, Secondary microcephaly OMIM:309530
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Cerebral cortical atrophy, Spasticity, Hypoplasia of the corpus callosum, ... OMIM:300983
Insulin-Like Growth Factor I Deficiency
Microcephaly, Sensorineural hearing impairment, Hyperactivity OMIM:608747
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Generalized... OMIM:271980
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Atonic seizure, Apraxia, Gait ataxia, Spasticity, Generalized non-motor (absence) seiz... OMIM:617810
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Spastic tetraplegia, Generalized myoclonic seizure, Spastic paraplegia, General... OMIM:612164
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tonic seizure, Opisthotonus, Choreoathetosis, Thin corpus callosum, Limb hypertonia, Ataxia, Recu... OMIM:619580
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Hyperlysinemia, Type I
Hyperactivity, Seizure OMIM:238700
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Epilepsy, Pyridoxine-Dependent
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus OMIM:266100
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, ... ORPHA:101046
Intellectual Developmental Disorder, Autosomal Dominant 33
Microcephaly, Hyperactivity OMIM:616311
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Pachygyria, Seizure ORPHA:329329
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
X-Linked Intellectual Disability, Hedera Type
Dysmetria, Action tremor, Atonic seizure, Frequent falls, Apraxia, Extrapyramidal muscular rigidi... ORPHA:93952
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Cerebral atrophy, Atonic seizure, Motor stereotypy, Hyperactivity, Generalize... ORPHA:168491
Spinocerebellar Ataxia 48
Dysmetria, Parkinsonism, Ataxia, Gait ataxia, Chorea, Bilateral tonic-clonic seizure, Babinski si... OMIM:618093
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Bilateral tonic-clonic seizure,... ORPHA:275864
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Stereotypical hand wringing, Microcephaly, Spasticity, Cerebral white matter hy... ORPHA:500545
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus OMIM:254800
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Myoclonus, Spastic diplegia OMIM:619065
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Low-set ears, Impaired tactile sensation, Focal-onset seizure, Ataxia, Microcephaly, ... OMIM:619092
Sarcosinemia
Tetraparesis, Bilateral tonic-clonic seizure, Ataxia, Infantile sensorineural hearing impairment ORPHA:3129
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years), Cerebral cortical a... OMIM:301008
Juvenile Huntington Disease
Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Rigidity, Neuron... ORPHA:248111
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Bilateral tonic-clonic seizure with generalized onset, Frontotemporal cerebral atr... OMIM:618559
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Upper limb spasticity, Microcephaly, Macrotia, Bilateral tonic-clonic seizure, ... ORPHA:457240
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Febrile Seizures, Familial, 11
Hippocampal atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile se... OMIM:614418
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Hyperactivity, Microcephaly, Tetraplegia, Seizure,... OMIM:274270
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spastic Paraplegia 82, Autosomal Recessive
Cerebral atrophy, Focal-onset seizure, Spasticity, Bilateral tonic-clonic seizure with generalize... OMIM:618770
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cerebral white matter atrophy, Microcephaly, Truncal ataxia, Chorea, Bilateral tonic-clonic seizure ORPHA:369840
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Recurrent hand flapping, Stereotypical body rocking, Clumsiness ORPHA:100973
Developmental And Epileptic Encephalopathy 90
Cerebral atrophy, Limb hypertonia, Focal-onset seizure, Babinski sign, Focal impaired awareness s... OMIM:301058
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Basal ... ORPHA:79243
Developmental And Epileptic Encephalopathy 97
Epileptic spasm, Stereotypical hand wringing, Seizure, Tremor OMIM:619561
Bilateral Polymicrogyria
Cerebellar ataxia associated with quadrupedal gait, Spastic tetraparesis, Abnormal pyramidal sign... ORPHA:268940
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Spastic paraparesis, Generalized myoclonic seizure, Oculomotor apraxia, Ataxia, Spasti... OMIM:614487
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Seizure OMIM:617643
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Abnormal pyramidal sign, Somatic sensory dysfunction, Deep cerebral white matter hyperintensities... ORPHA:199354
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Impaired tactile sensation, Focal-onset seizure, Microcephaly, Cerebral white matter hypoplasia, ... OMIM:619091
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Bilateral tonic-clonic seizure, Seizure OMIM:601217
Glycine Encephalopathy
Hyperactivity, Seizure, Agenesis of corpus callosum, Myoclonus OMIM:605899
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Bilateral tonic-clonic seizure with focal onset, Seizure precipitated ... ORPHA:363558
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Microcephaly, Spasticity, Oculomotor apraxia, Seizure, Tr... OMIM:612716
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Poor coordination, Recurrent hand flapping, Microcephaly, Stereotypical body rocking OMIM:309548
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Microcephaly, Macrotia, Leukoencephalopathy, Hyperkinetic movem... OMIM:617302
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Parkinsonism, Myoclonic spasms, Motor stereotypy, Focal T2 hyperintense thalami... ORPHA:79264
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure, Macrotia OMIM:300928
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Cerebral cortical atrophy, Abn... ORPHA:231169
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Hypertonia, Low-set ears, Motor stereotypy, Hyperactivity, Cerebr... ORPHA:352490
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Microcephaly, Gait ataxia, Posteriorly rotated ears, Macrotia OMIM:609425
Distal Monosomy 10Q
Abnormality of the outer ear, Low-set ears, Patent ductus arteriosus, Cavum septum pellucidum, Oc... ORPHA:96148
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Anteverted ears, Myoclonic absence seizure, Ataxia, Poor coordination,... ORPHA:544254
Oxoglutarate Dehydrogenase Deficiency
Gait ataxia, Bilateral tonic-clonic seizure, Dysmetria, Rigidity OMIM:203740
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Head tremor, Bilateral tonic-clonic seizure with focal o... OMIM:619428
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysmetria, Spastic dysarthria, Spastic paraparesis, Generalized myoclonic seizure, Oculomotor apr... ORPHA:313772
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Microcephaly, Spasticity, Cortical dysplasia, Hypoplasia of the corpus callosum, S... ORPHA:457260
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Patent ductus arteriosus, Motor stereotypy, Sensorineural hearing i... ORPHA:435638
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Atonic seizure, Prominent ear helix, Motor stereotypy, Occipital cortical atrophy,... ORPHA:411986
Cln5 Disease
Dysmetria, Generalized-onset seizure, Hyperactivity, Poor gross motor coordination, Focal myoclon... ORPHA:228360
Amish Lethal Microcephaly
Agenesis of corpus callosum, Limb hypertonia, Microcephaly, Lissencephaly, Spina bifida, Bilatera... ORPHA:99742
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Ck Syndrome
Hyperactivity, Microcephaly, Abnormal cerebral cortex morphology, Pachygyria, Posteriorly rotated... ORPHA:251383
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Abnormal pyramidal sign, Hyperintensity of cerebral white matter on MRI, Impair... ORPHA:500180
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Seizure, Ataxia ORPHA:3233
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Atonic seizure, Febrile seizure (withi... OMIM:604352
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Dysmetria, Oculomotor apraxia, Gait ataxia, Spasticity, Bilateral tonic-clonic seizure, Seizure, ... ORPHA:529665
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
Hyperprolinemia, Type I
Hyperactivity, Seizure, Ataxia, Status epilepticus OMIM:239500
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Seizure, Hearing impairment OMIM:248510
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Microphthalmia-Brain Atrophy Syndrome
Generalized-onset seizure, Generalized myoclonic seizure, Microcephaly, Tongue thrusting, Focal h... ORPHA:77299
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Hypoglycemic seizures, Sensorineural hearing impairment, Involuntary movements, G... ORPHA:480864
Intellectual Developmental Disorder, Autosomal Dominant 43
Cerebral atrophy, Hyperactivity, Microcephaly, Hypoplasia of the corpus callosum, Seizure OMIM:616977
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Microcephaly, Cerebral cort... ORPHA:280763
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, ... OMIM:619717
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Stereotypical hand wringing, Hyperactivity, Ataxia, Febrile seizure (within the a... OMIM:614104
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Agenesis of corpus callosum, Hyperactivity, Microcephaly, Spasticity, Dec... OMIM:615286
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Limb hypertonia, Overfolded helix, Focal impaired awareness seizure, Polymicrogyria, Seizure, Bil... ORPHA:488613
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Hyperactivity, Microcephaly, Spasticity, Seizure, Tremor OMIM:618718
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Progressive microcephaly, Agenesis of corpus callosum, Low-set ears, Hyperintensity of cerebral w... ORPHA:481152
Intellectual Developmental Disorder, X-Linked 98
Stereotypical body rocking, Tonic seizure, Atonic seizure, Stereotypical hand wringing, Hyperacti... OMIM:300912
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral dysmyelination, Cerebral atrophy, Spastic tetraplegia, Hearing impairment, Sensorineural... OMIM:609136
Cntnap2-Related Developmental And Epileptic Encephalopathy
Stereotypical hand wringing, Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Abno... ORPHA:163681
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile seizure (within the age range of 3 months to 6 years), Febrile statu... OMIM:608096
Intellectual Developmental Disorder, Autosomal Recessive 61
Hypoplasia of the corpus callosum, Low-set ears, Hyperactivity, Spasticity, Posteriorly rotated e... OMIM:617773
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Atypical Rett Syndrome
Hand apraxia, Pill-rolling tremor, Apraxia, Impaired pain sensation, Involuntary movements, Gener... ORPHA:3095
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Frequent falls, Spastic tetraplegia, Hyperintensity of cerebral white matter on... ORPHA:1947
Apert Syndrome
Agenesis of corpus callosum, Sensorineural hearing impairment, Conductive hearing impairment, Mor... ORPHA:87
Christianson Syndrome
Generalized-onset seizure, Motor stereotypy, Aplasia/Hypoplasia of the corpus callosum, Microceph... ORPHA:85278
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Ataxia, Abnormality of the inner ear... ORPHA:705
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Febrile seizu... OMIM:605021
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Progressive sensorineural hearing impairment, Bilateral tonic-clonic seizure, Bilateral sensorine... OMIM:540000
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Generalized myoclonic seizure, Lower limb spasticity, Focal-onset seizure, A... ORPHA:395
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Abnormal pyramidal sign, Atonic seizure, Generalized myoclonic seizure, ... ORPHA:101070
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Motor stereotypy, Lissencephaly, Type II lissencephaly, Small basal ganglia, Dilation of lateral ... ORPHA:300570
X-Linked Non-Syndromic Intellectual Disability
Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Babinski sign, B... ORPHA:777
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:618856
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Status epilepticus, Spasticity, Macrotia, Hypoplasia of the corpus callosum, Bi... ORPHA:364028
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sensorineural hearing impairment, Microcephaly, Spasticity, Hypoplasia of the corpus callosum, Bi... ORPHA:544503
Ck Syndrome
Hyperactivity, Microcephaly, Pachygyria, Posteriorly rotated ears, Polymicrogyria, Seizure OMIM:300831
Seizures, Benign Familial Infantile, 1
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Caudate atrophy, Hyperactivity, Status e... ORPHA:363400
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity, Cerebral cortical atrophy, Hypoplasia of the corpus callosum... OMIM:618859
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Clonic sei... OMIM:610539
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Spastic paraparesis, Focal motor seizure, Bilateral tonic-clonic seizure... OMIM:619338
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormal cortical gyration, Hypertonia, Atonic seizure, Spastic tetraplegia, Generalized myocloni... ORPHA:79351
Mohr-Tranebjaerg Syndrome
Ankle clonus, Vestibular dysfunction, Abnormal pyramidal sign, Caudate atrophy, Prelingual sensor... ORPHA:52368
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Choreoathetosis... ORPHA:2524
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Myoclonic spasms, Low-set ears, Motor stereotypy, Hyperactivity, Lower limb spasticit... ORPHA:447997
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Tongue thrusting, Cessation of head growth, Secondary microcephaly, Bil... ORPHA:98795
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Atonic seizure, Choreoathetosis, Generalized clonic seizure, Hyperactivity, Foca... ORPHA:1934
Xq25 Microduplication Syndrome
Hyperactivity, Seizure, Hypoplasia of the corpus callosum ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Seizure, Hypoplasia of the corpus callosum OMIM:300979
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure, Cerebral atrophy ORPHA:457205
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Fasciculations, Cataplexy, Ataxia, Febrile seizure (within the age range of 3 m... ORPHA:496641
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Spastic tetraparesis, Low-set ears, Sensorineural hearing impairment, Limb hypertonia, Clonus, Hy... ORPHA:423479
Seizures, Benign Familial Neonatal, 1
Bilateral tonic-clonic seizure, Focal clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Hyperactivity, Seizure OMIM:300434
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Cerebral atrophy, Seizure, Macrotia, Recurrent hand flapping OMIM:617268
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Sensorineural hearing impairment, Generalized myoclonic seizure, Limb hypertoni... ORPHA:457351
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Photosensitive myoclonic seizure, Cochlear degeneration, Ataxia, Slowed slurred speech, Progressi... OMIM:172500
Angelman Syndrome
Cerebral dysmyelination, Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myo... ORPHA:72
Pitt-Hopkins-Like Syndrome 1
Focal cortical dysplasia, Generalized-onset seizure, Hyperactivity, Focal-onset seizure, Ataxia, ... OMIM:610042
Fragile X Syndrome
Periventricular heterotopia, Hyperactivity, Recurrent hand flapping, Macrotia, Seizure OMIM:300624
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:607745
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Tremor, Fo... ORPHA:1942
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Prominent antihelix, Agenesis of corpus callosum, Microcephaly, Spasticity, Mac... OMIM:615802
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Abnormal pyramidal sign, Hyperactivity, Cerebral white matter atrophy, Microcephaly, Tetraplegia,... ORPHA:369939
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
4Q21 Microdeletion Syndrome
Agenesis of corpus callosum, Low-set ears, Motor stereotypy, Seizure, Hearing impairment, Tremor ORPHA:238750
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Tremor OMIM:607876
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure ORPHA:85288
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor ORPHA:98807
Ritscher-Schinzel Syndrome 4
Agenesis of corpus callosum, Athetosis, Focal-onset seizure, Ataxia, Dysgenesis of the hippocampu... OMIM:619435
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal aware seizure, Febrile seizure (within the... OMIM:615697
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Hearing impairment, Secondary microcephaly OMIM:616351
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalized onset, ... OMIM:619028
Myopathy With Extrapyramidal Signs
Frequent falls, Choreoathetosis, Perisylvian polymicrogyria, Hyperactivity, Ataxia, Hypoplastic a... OMIM:615673
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Tinnitus, Athetosis, Focal myoclonic seizure, Spastic paraplegia, Cerebral palsy, Focal impaired ... ORPHA:369929
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms OMIM:619031
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Sei... ORPHA:85277
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Involuntary movements, Focal hyperkinetic seizure, Nocturnal seizures, Bilatera... ORPHA:98784
Developmental And Epileptic Encephalopathy 87
Cerebral atrophy, Recurrent hand flapping, Seizure, Infantile spasms, Hypertonia OMIM:618916
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Microcephaly, Sensorineural hearing impairment, Hyperactivity, Low-set ears OMIM:618342
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Patent ductus arteriosus, Motor stereotypy, Sensorineural hearing impairm... ORPHA:500159
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Japanese Encephalitis
Opisthotonus, Cogwheel rigidity, Respiratory paralysis, Abnormality of extrapyramidal motor funct... ORPHA:79139
Intellectual Developmental Disorder, Autosomal Recessive 39
Microcephaly, Hyperactivity, Anteverted ears, Macrotia OMIM:615541
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized-onset seizure, Generalized myoclonic seizure, Limb hypertonia, Bilateral tonic-clonic... OMIM:615501
Neuromuscular Oculoauditory Syndrome
Simple ear, Agenesis of corpus callosum, Periventricular heterotopia, Sensorineural hearing impai... OMIM:618733
Lamb-Shaffer Syndrome
Motor stereotypy, Hyperactivity, Ataxia, Microcephaly, Upper motor neuron dysfunction, Seizure ORPHA:530983
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Microcephaly, Spasticity, Hypoplasia of the corpus callosum, Seizure, Hearing impa... OMIM:300958
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) OMIM:609800
Pontocerebellar Hypoplasia, Type 2E
Large earlobe, Cerebral atrophy, Hypertonia, Tonic seizure, Opisthotonus, Progressive microcephal... OMIM:615851
Dk1-Cdg
Progressive microcephaly, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Infantile... ORPHA:91131
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cataplexy, Lower limb spasticity, Ataxia, Microcephaly, Generalized tonic seizure, Diffuse cerebr... OMIM:617193
Mend Syndrome
Low-set ears, Hyperactivity, Hydrocephalus, Seizure, Hypertonia OMIM:300960
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Microcephaly, Macrotia, Hypoplasia of the corpus callosum, Abnor... ORPHA:391307
De Sanctis-Cacchione Syndrome
Cerebral atrophy, Choreoathetosis, Sensorineural hearing impairment, Ataxia, Microcephaly, Scisso... OMIM:278800
X-Linked Cerebral Adrenoleukodystrophy
Spastic tetraparesis, Dysmetria, Apraxia, Hyperactivity, Hoffmann sign, Lower limb spasticity, At... ORPHA:139396
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Repetitive compulsive behavior, Abnormal helix morphology, Abn... ORPHA:401777
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Hearing impairment, Focal-onset seizure, Ataxia, Microcephaly, Cerebral cortica... OMIM:618143
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Simplified gyral pattern, Gait ataxia, Cortical dysplasia, Hypoplasia of the corpu... OMIM:300354
Myoclonic Epilepsy Of Lafora
Apraxia, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Lafora b... OMIM:254780
Biotinidase Deficiency
Sensorineural hearing impairment, Spastic paraparesis, Generalized myoclonic seizure, Ataxia, Mye... ORPHA:79241
Phenylketonuria
Cerebral calcification, Hyperactivity, Microcephaly, Seizure, Attention deficit hyperactivity dis... OMIM:261600
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Spastic tetraparesis, Corpus callosum atrophy, Secondary microcephaly, Bilateral tonic-clonic sei... OMIM:608809
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraplegia, Hypoplasia of the corpus callosum, Focal-onset seizure, Upper mot... ORPHA:329308
Hermansky-Pudlak Syndrome 10
Cerebral atrophy, Low-set ears, Focal myoclonic seizure, Microcephaly, Macrotia, Bilateral tonic-... OMIM:617050
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity, Microcephaly, Low-set, posteriorly rotated ears, Seizure ORPHA:3306
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Impaired pain sensation, Focal-onset seizure, Generalized tonic seiz... ORPHA:505652
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Motor stereotypy, Microcephaly, Abnormal antihelix morphology, Protr... ORPHA:261144
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Seiz... OMIM:301013
Intellectual Developmental Disorder, Autosomal Recessive 13
Secondary microcephaly, Hyperactivity, Seizure, Hypoplasia of the corpus callosum OMIM:613192
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Bilateral tonic-clonic seizure, Dilation of lateral ventricles OMIM:619278
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Hyperactivity, Ataxia, Microcephaly, Seizure ORPHA:228402
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Seizure, Ataxia, Cessation of head growth ORPHA:411515
Ring Chromosome 21 Syndrome
Holoprosencephaly, Generalized myoclonic seizure, Microcephaly, Spasticity, Simple febrile seizur... ORPHA:1445
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Hyperactivity, Microtia, Microcephaly, Posteriorly rotated ears, Seizure OMIM:618089
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microcephaly, Bilateral tonic-clonic seizure OMIM:619356
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Hyperactivity, Microcephaly, Thickened helices, Seizure OMIM:616809
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Neurofibrillary tangles, Dysmetria, Intention tremor, Hyperactivity, Bradykines... OMIM:610217
1Q44 Microdeletion Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Agenesis of corpus callosum, Hydrocephalus ORPHA:238769
5Q14.3 Microdeletion Syndrome
Frontal cortical atrophy, Seizure, Motor stereotypy, Hypoplasia of the corpus callosum ORPHA:228384
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Sensorineural hearing impairment, Bilateral... ORPHA:488627
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypical body rocking, Recurrent otitis media, Abnormal Eustachian tube morphology, Pineal c... ORPHA:513456
22Q11.2 Duplication Syndrome
Motor stereotypy, Microcephaly, Anterior creases of earlobe, Seizure, Hearing impairment, Attenti... ORPHA:1727
Adenylosuccinase Deficiency
Cerebral atrophy, Opisthotonus, Low-set ears, Hyperactivity, Microcephaly, Gait ataxia, Spasticit... OMIM:103050
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Recurrent otitis media, Seizure, Lower limb hypertonia OMIM:169400
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Seizure, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Hyperactivity, Cerebral palsy, Microcephaly, Hypertonia OMIM:615834
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hydrocephalus, Tonic seizure, Agenesis of corpus callosum, Low-set ears, Sensorineural hearing im... OMIM:619512
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent otitis media, Tremor, Recurrent hand flapping, Microcephaly, Speech apraxia, Posteriorl... OMIM:619680
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Mitochondrial Dna-Associated Leigh Syndrome
Sensorineural hearing impairment, Generalized myoclonic seizure, Ataxia, Gait ataxia, Focal T2 hy... ORPHA:255210
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Conductive hearing impairment, Sensorineural hearing impairment, Anterior hyp... ORPHA:1435
Rubinstein-Taybi Syndrome 2
Microcephaly, Hyperactivity, Posterior helix pit OMIM:613684
Spastic Paraplegia 29, Autosomal Dominant
Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity, Spastic paraplegia... OMIM:609727
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent otitis media, Abnormality of the ear, Repetitive compulsive behavior, Spasticity, Oromo... ORPHA:391372
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Periventricular heterotopia, Microcephaly, Lissencephaly, Cortical dysplasia, H... ORPHA:468631
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Microcephaly, Bilateral tonic-clonic seizure, Hypertonia ORPHA:79350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Repetitive compulsive behavior, Tonic seizure, Low-set ears, Lower limb spasticity, Ataxia, Micro... OMIM:300260
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Dysmetria, Hand tremor, Low-set ears, Hippocampal atrophy, Hyperactivity, Poor gross m... OMIM:614756
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Hyperactivity, Seizure, Febrile seizure (within the age range of 3 month... OMIM:615516
Melas
Agenesis of corpus callosum, Sensorineural hearing impairment, Focal-onset seizure, Ataxia, Aplas... ORPHA:550
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, Seizure OMIM:617169
48,Xxyy Syndrome
Motor stereotypy, Tremor, Ataxia, Chronic otitis media, Seizure, Attention deficit hyperactivity ... ORPHA:10
Coffin-Siris Syndrome 7
Recurrent otitis media, Low-set ears, Hyperactivity, Posteriorly rotated ears, Macrotia, Hearing ... OMIM:618027
Rett Syndrome, Congenital Variant
Progressive microcephaly, Apraxia, Athetosis, Simplified gyral pattern, Tongue thrusting, Pachygy... OMIM:613454
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Charge Syndrome
Patent ductus arteriosus, Hearing impairment, Anterior hypopituitarism, Microtia, Microcephaly, E... ORPHA:138
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Febrile seizure (within the age range of 3 months to 6 ye... ORPHA:42
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Hyperactivity, Ataxia, Posteriorly rotated ears, Decreased response to growth hormo... OMIM:601853
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypoplasia of the corpus callosum, Hyperactivity, Ataxia, Recurrent hand flapping, Tongue thrusti... ORPHA:98794
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Agenesis of corpus callosum, Low-set, posteriorly rotated ears, Narrow internal auditory canal, S... ORPHA:990
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Tonic seizure, Hyperactivity, Microcephaly, Seizure, Infantile spasms OMIM:619239
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Stereotypical hand wringing, Tremor, Focal-onset seizure, Focal myoclonic ... OMIM:619229
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Spastic tetraparesis, Stereotypical hand wringing, Febrile seizure (w... OMIM:619179
Sandhoff Disease
Fasciculations, Ataxia, Impaired temperature sensation, Upper motor neuron dysfunction, Spasticit... OMIM:268800
Choreoacanthocytosis
Abnormal hippocampus morphology, Phonic tics, Small basal ganglia, Dilation of lateral ventricles... ORPHA:2388
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Hyperactivity, Lower limb spasticity, Seizure, Tremor ORPHA:3077
Mosaic Variegated Aneuploidy Syndrome 1
Agenesis of corpus callosum, Low-set ears, Generalized myoclonic seizure, Microcephaly, Hypodyspl... OMIM:257300
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Ataxia, Microcephaly, Chorea, Seizure, Hypertonia ORPHA:52503
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Seizure OMIM:300143
Hyperphosphatasia-Intellectual Disability Syndrome
Cupped ear, Oculomotor apraxia, Ataxia, Bilateral tonic-clonic seizure, Thickened helices, Seizur... ORPHA:247262
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Low-set ears, Corpus callosum atrophy, Cortical dysplasia, Hypoplasia of... OMIM:261515
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure, Pain insensitivity, Impaired tactile sensation ORPHA:453510
Nivelon-Nivelon-Mabille Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Focal-onset seizure, Thin corpus callosum OMIM:600092
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Episodic hemiplegi... ORPHA:2131
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Motor stereotypy, Hyperactivity, Recurrent hand flapping, Macrotia, Seizu... ORPHA:449291
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Microcephaly, Paraplegia, Seizure ORPHA:927
47,Xyy Syndrome
Low-set ears, Hyperactivity, Hydrocephalus, Increased circulating gonadotropin level, Seizure, At... ORPHA:8
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Motor stereotypy, Paroxysmal dyskinesia, Sensorineural hearing impairment, Condu... ORPHA:261197
Smith-Magenis Syndrome
Abnormality of the outer ear, Impaired pain sensation, Hyperactivity, Morphological abnormality o... OMIM:182290
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Low-set ears, Motor stereotypy, Cavum septum pellucidum, Ata... ORPHA:457279
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Microcephaly, Bilateral tonic-clonic seizure, Hepatocellular necrosis OMIM:201475
Potocki-Lupski Syndrome
Hyperactivity, Microcephaly, Hypoplasia of the corpus callosum, Seizure, Hearing impairment OMIM:610883
Brain-Lung-Thyroid Syndrome
Incoordination, Agenesis of corpus callosum, Choreoathetosis, Intention tremor, Cavum septum pell... ORPHA:209905
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Sensorineural hearing impairment, Ataxia, Microcephaly, Protruding ear, Seizure ORPHA:2479
Infantile Neuroaxonal Dystrophy
Spastic tetraparesis, Abnormal pyramidal sign, Iron accumulation in globus pallidus, Hyperactivit... ORPHA:35069
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms, Poor coordination, Primary microcephaly ORPHA:478029
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Gait ataxia, Low-set, posteriorly rotated ears, Cerebral cortical at... ORPHA:457359
Alazami Syndrome
Stereotypical hand wringing, Seizure, Low-set ears, Motor stereotypy ORPHA:319671
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hyperactivity, Progressive microcephaly, Hypertonia OMIM:617865
Hallermann-Streiff Syndrome
Choreoathetosis, Low-set ears, Hyperactivity, Microcephaly, Spina bifida, Bilateral tonic-clonic ... OMIM:234100
Smith-Magenis Syndrome
Motor stereotypy, Aplasia/Hypoplasia of the corpus callosum, Conductive hearing impairment, Impai... ORPHA:819
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Abnormality of the outer ear, Prominent antihelix, Conductive hearing impairment, Sensorineural h... ORPHA:466943
Hyperlysinemia
Spastic tetraparesis, Dysmetria, Opisthotonus, Hypoplasia of the antihelix, Hyperactivity, Spasti... ORPHA:2203
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Hyperactivity, Ataxia, Poor coordination, Spasticity, Posteriorly rotated ears, Sei... OMIM:618430
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebral edema, Focal T2 hypointense basal ganglia lesion, Sensorineural hearing impairment, Atax... OMIM:252010
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Incoordination, Somatic sensory dysfunction, Paralysis, Hyperacti... ORPHA:43
White-Sutton Syndrome
Abnormality of the outer ear, Incoordination, Motor stereotypy, Sensorineural hearing impairment,... ORPHA:468678
Leber Congenital Amaurosis 1
Eye poking, Sensorineural hearing impairment OMIM:204000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic tetraplegia OMIM:615474
Intellectual Disability-Strabismus Syndrome
Recurrent otitis media, Agenesis of corpus callosum, Low-set ears, Patent ductus arteriosus, Hype... ORPHA:363528
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Action tremor, Lower limb spasticity, Ataxia, Bilateral sensorine... ORPHA:66634
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Progressive spastic paraplegia, Hyperactivity, Microcephaly, Lower limb hypertonia, Spasticity, M... OMIM:300534
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Pain insensitivity, Seizure, Hyperactivity OMIM:600430
Stankiewicz-Isidor Syndrome
Pineal cyst, Low-set ears, Patent ductus arteriosus, Hyperactivity, Seizure, Hearing impairment OMIM:617516
Oliver Syndrome
Microcephaly, Bilateral tonic-clonic seizure, Absent earlobe, Small earlobe ORPHA:2920
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Spastic tetraparesis, Focal-onset seizure, Infantile spasms, Microce... OMIM:301044
Brooks-Wisniewski-Brown syndrome
Cerebral atrophy, Cupped ear, Agenesis of corpus callosum, Low-set ears, Hyperactivity, Poor coor... OMIM:300612
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Abnormal corpus callosum morphology, Generalized-onset seizure, Hyperactivity, Focal-onset seizur... ORPHA:457485
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Microtia, Absent antihelix, Microcephaly, Stereotypical body rocking, A... ORPHA:293939
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Seizure, Attention deficit hyperactivity disorder ORPHA:313892
19P13.3 Microduplication Syndrome
Cerebral atrophy, Low-set ears, Hyperactivity, Microtia, Febrile seizure (within the age range of... ORPHA:447980
Angelman Syndrome Due To A Point Mutation
Ataxia, Recurrent hand flapping, Tongue thrusting, Cessation of head growth, Secondary microcepha... ORPHA:411511
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Posterior pituitary hypoplasia, Stereotypical hand wringing, Generalized myocloni... ORPHA:268261
2Q37 Microdeletion Syndrome
Motor stereotypy, Conductive hearing impairment, Microcephaly, Seizure, Attention deficit hyperac... ORPHA:1001
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Low-set ears, Anteverted ears, Sensorineural hearing impairment, Focal-onset seizure, Ataxia, Feb... ORPHA:459070
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Agenesis of corpus callosum, Low-set ears, Hyperactivity, Microtia, Micro... ORPHA:261323
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypertonia, Ataxia, Recurrent hand flapping, Secondary microcephaly, Seizure, Attention deficit h... OMIM:300986
Branchiootorenal Syndrome 1
Cupped ear, Incomplete partition of the cochlea type II, Conductive hearing impairment, Abnormal ... OMIM:113650
Kinsship Syndrome
Spastic tetraparesis, Low-set ears, Focal-onset seizure, Primary microcephaly, Microcephaly, Bila... OMIM:619297
Macrocephaly-Developmental Delay Syndrome
Seizure, Abnormal speech discrimination, Motor stereotypy ORPHA:397612
Noonan Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Aplasia of the semicircular ... ORPHA:648
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hyperactivity, Spastic paraparesis, Ataxia, Cerebral palsy, Spa... ORPHA:760
Chromosome Xp11.3 Deletion Syndrome
Microcephaly, Bilateral tonic-clonic seizure OMIM:300578
Rett Syndrome
Progressive microcephaly, Motor stereotypy, Stereotypical hand wringing, Bradykinesia, Limb aprax... ORPHA:778
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Mic... ORPHA:73272
7Q11.23 Microduplication Syndrome
Large earlobe, Dysmetria, Patent ductus arteriosus, Motor stereotypy, Hyperactivity, Simplified g... ORPHA:96121
Developmental And Epileptic Encephalopathy 89
Tetraparesis, Cerebral atrophy, Low-set ears, Asymmetry of the ears, Spasticity, Hypoplasia of th... OMIM:619124
Chromosome 10Q26 Deletion Syndrome
Low-set ears, Patent ductus arteriosus, Sensorineural hearing impairment, Hyperactivity, Microcep... OMIM:609625
Angelman Syndrome
Hyperactivity, Cerebral cortical atrophy, Limb tremor, Progressive gait ataxia, Secondary microce... OMIM:105830
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Elevated circulating luteinizing hormone level, Elevated circulat... ORPHA:3044
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Agenesis of corpus callosum, Low-set ears, Hyperactivity, Abnormally folded helix, Seizure OMIM:309520
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure, Macrotia ORPHA:2976
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Tremor, Primary microcephaly, Gait ataxia, Secondary microcephaly, Seizure, Att... ORPHA:476126
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity, Macrotia, Seizure OMIM:300486
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Typical absence seizure, Posteriorly rotated ears, Bilateral tonic-clonic se... ORPHA:466950
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Microcephaly, Paraparesis, Paraplegia, Hemiparesis, Bilateral tonic-clonic seizure ORPHA:79124
Rhizomelic Chondrodysplasia Punctata, Type 5
Convulsive status epilepticus, Microcephaly, Seizure OMIM:616716
White-Sutton Syndrome
Abnormality of the outer ear, Cerebral atrophy, Hypoglycemic seizures, Hypoplasia of the corpus c... OMIM:616364
Chromosome 13Q33-Q34 Deletion Syndrome
Agenesis of corpus callosum, Patent ductus arteriosus, Hearing impairment, Anencephaly, Hyperacti... OMIM:619148
19P13.12 Microdeletion Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Hyperactivity, Mic... ORPHA:254346
Seckel Syndrome 1
Low-set ears, Hyperactivity, Seizure, Microcephaly, Pachygyria, Large basal ganglia OMIM:210600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Patent ductus arteriosus, Generalized myoclonic seizure, Generalized tonic seizure,... ORPHA:369837
W Syndrome
Bilateral tonic-clonic seizure, Spasticity ORPHA:2804
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, Sensorineural hea... ORPHA:50815
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Impaired pain sensation, Microcephaly, Tongue thrusting, Abnormal periv... OMIM:606232
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Hearing impairment ORPHA:99885
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Lower limb spasticity, Tics, Generalized non-motor (absence) seizure, Abnormal cer... ORPHA:363686
Helsmoortel-Van Der Aa Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Decreased response to growth hormone stimulatio... OMIM:615873
Gaucher Disease
Generalized myoclonic seizure, Oculomotor apraxia, Ataxia, Hemiplegia/hemiparesis, Hydrocephalus,... ORPHA:355
Cocaine Intoxication
Involuntary movements, Ischemic stroke, Focal-onset seizure, Atypical absence status epilepticus,... ORPHA:90068
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Neurofibrillary tangles, Parkinsonism, Apraxia, Lewy bodies, Cere... OMIM:607485
Gorham-Stout Disease
Torticollis, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Patent ductus arteriosus, Motor stereotypy, Posterior pituitary hypoplasia, Microcephaly, Cerebra... ORPHA:464311
Childhood Disintegrative Disorder
Seizure, Motor stereotypy ORPHA:168782
Bainbridge-Ropers Syndrome
Recurrent hand flapping, Microcephaly, Seizure, Abnormal cerebral white matter morphology, Hypert... ORPHA:352577
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Atresia of the external auditory canal, Microtia, Microcephaly, Bilater... ORPHA:2306
Charge Syndrome
Gonadotropin deficiency, Cupped ear, Low-set ears, Patent ductus arteriosus, Sensorineural hearin... OMIM:214800
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Seizure, Hearing impairment OMIM:252920
Kleefstra Syndrome
Agenesis of corpus callosum, Motor stereotypy, Microcephaly, Cerebral cortical atrophy, Chronic o... ORPHA:261494
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Cerebral edema, Seizure, Resting tremor ORPHA:319213
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Seizure, Hearing impairment OMIM:252900
X Small Rings
Bilateral tonic-clonic seizure, Seizure, Protruding ear ORPHA:96201
Glass Syndrome
Microcephaly, Hyperactivity, Seizure, Low-set ears OMIM:612313
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Seizure, Speech apraxia, Motor stereotypy ORPHA:529965
Neurodegeneration With Brain Iron Accumulation 1
Abnormal pyramidal sign, Parkinsonism, Choreoathetosis, Eye of the tiger anomaly of globus pallid... OMIM:234200
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Seizure OMIM:615824
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Patent ductus arteriosus, Motor stereotypy, Hyperactivity, Febrile... ORPHA:464306
Transketolase Deficiency
Motor stereotypy, Patent ductus arteriosus, Hearing impairment, Attention deficit hyperactivity d... ORPHA:488618
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Microcephaly, Abnormal earlobe morphology, Seizure, Tremor ORPHA:85293
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Seizure, Macrotia, Speech apraxia OMIM:618505
16P11.2P12.2 Microdeletion Syndrome
Low-set ears, Impaired pain sensation, Hyperactivity, Tics, Chronic otitis media, Abnormal pinna ... ORPHA:261211
Cardiofaciocutaneous Syndrome 1
Large earlobe, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the frontal... OMIM:115150
Wiedemann-Steiner Syndrome
Abnormal corpus callosum morphology, Low-set ears, Motor stereotypy, Hyperactivity, Microcephaly,... ORPHA:319182
Mgat2-Cdg
Prominent antihelix, Progressive microcephaly, Patent ductus arteriosus, Stereotypical hand wring... ORPHA:79329
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Blepharospasm, Limb hypertonia, Athetosis, Tongue thrusting, Limb tremor, Exagge... OMIM:608643
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Hyperactivity, Chronic otitis media, Hearing impairment ORPHA:412035
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Seizure, Hearing impairment OMIM:252930
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Bor Syndrome
Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ... ORPHA:107
Joubert Syndrome 1
Hemifacial spasm, Occipital myelomeningocele, Low-set ears, Hyperactivity, Ataxia, Microcephaly, ... OMIM:213300
Pyruvate Carboxylase Deficiency
Abnormal pyramidal sign, Periventricular cysts, Agenesis of corpus callosum, Basal ganglia gliosi... ORPHA:3008
Tick-Borne Encephalitis
Tinnitus, Incoordination, Somatic sensory dysfunction, Paralysis, Generalized-onset seizure, Vert... ORPHA:297
Hydroxykynureninuria
Hypertonia, Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Hyperactivity, Pac... OMIM:235510
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Status epilepticus, Generalized-onset seizure OMIM:618314
Bainbridge-Ropers Syndrome
Low-set ears, Recurrent hand flapping, Microcephaly, Posteriorly rotated ears, Hypoplasia of the ... OMIM:615485
Leigh Syndrome With Nephrotic Syndrome
Focal T2 hyperintense basal ganglia lesion, Bilateral tonic-clonic seizure with focal onset ORPHA:255249
Monosomy 9Q22.3
Low-set ears, Calcification of falx cerebri, Hyperactivity, Thickened ears, Hydrocephalus, Seizure ORPHA:77301
Doors Syndrome
Low-set ears, Atresia of the external auditory canal, Microcephaly, Focal impaired awareness seiz... ORPHA:79500
Norrie Disease
Hypertonia, Abnormality of the diencephalon, Abnormal helix morphology, Motor stereotypy, Sensori... ORPHA:649
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Abnormal pyramidal sign, Hypertonia, Vocal cord paresis, Conductive hea... ORPHA:581
Mend Syndrome
Hypoplasia of the corpus callosum, Low-set ears, Hyperactivity, Limb hypertonia, Abnormal auditor... ORPHA:401973
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Repetitive compulsive behavior, Choreoathetosis, Motor stereotypy, Athetoid cerebr... ORPHA:522077
Maternal Phenylketonuria
Hypoplasia of the corpus callosum, Hyperactivity, Microcephaly, Hypoplastic helices, Seizure ORPHA:2209
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Microcephaly, Clonus, Otitis media... OMIM:619475
Koolen-De Vries Syndrome
Patent ductus arteriosus, Anteverted ears, Hyperactivity, Gray matter heterotopia, Microcephaly, ... OMIM:610443