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:
TEC,  NOR-1,  Nor1,  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
Dystonia, Absent septum pellucidum, Difficulty walking, Hypoplasia of the corpus callosum, Hypopl... ORPHA:101685
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Seizure, Cortical... OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypertonia, Spastic tetra... OMIM:604317
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Spastic tetraple... OMIM:616657
Isolated Focal Cortical Dysplasia
Nocturnal seizures, Thick cerebral cortex, Focal-onset seizure, Hemiparesis, Seizure, Infantile s... ORPHA:65683
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Cerebral atrophy, Abnormal ... OMIM:607208
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Truncal ataxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Myoclonic seizure, Bilateral... OMIM:611726
Episodic Ataxia, Type 9
Episodic ataxia, Vertigo, Dystonia, Bilateral tonic-clonic seizure, Seizure, Status epilepticus, ... OMIM:618924
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Abnormal cerebral white matter morphology, Atonic se... OMIM:618587
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:178469
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Hydrocephalus, Focal-onset seizure, Hypertonia, Bilateral ... OMIM:619302
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Hypoplasia of the corpus callosum, Gait disturbance, Cerebral atrophy, Bilateral tonic-c... OMIM:300423
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Focal-onset seizure, Hemiparesis, Bilateral tonic-clonic seizure, Focal at... ORPHA:101071
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Hypoplastic hippocampus, Chorea, Focal-onset seizure, Myoclonic abse... OMIM:619317
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Seizure, Hearing impairment, Cortical dys... ORPHA:208441
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Tortico... OMIM:618425
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Tremor, Incoordination, Generalize... ORPHA:36387
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic seizure ORPHA:22
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Dy... OMIM:618917
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Bilateral tonic-clonic seizure, Tetraplegia... OMIM:104290
Periventricular Nodular Heterotopia 8
Seizure, Periventricular nodular heterotopia, Microcephaly, Attention deficit hyperactivity disor... OMIM:618185
Bilateral Generalized Polymicrogyria
Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyelid myoclonus, Generalized-on... ORPHA:208447
Pontocerebellar Hypoplasia, Type 14
Dystonia, Focal-onset seizure, Hypertonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoc... OMIM:619301
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Status epilepticus, Hearing impairment, Myoclonus, Microcephaly, ... OMIM:609056
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Seizure, Simplified gyral pattern, Hyperactivity, Micr... OMIM:613402
Familial Focal Epilepsy With Variable Foci
Paresthesia, Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile se... ORPHA:98820
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria, Bilateral tonic-clonic seizure OMIM:614115
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Pachygyria, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Cerebral white matte... OMIM:618730
Foxg1 Syndrome
Inability to walk, Dystonia, Choreoathetosis, Pachygyria, Difficulty walking, Hypoplasia of the c... ORPHA:561854
Developmental And Epileptic Encephalopathy 34
Inability to walk, Focal-onset seizure, Cerebral atrophy, Abnormal pyramidal sign, Focal hemiclon... OMIM:616645
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Focal-onset seizure, Bilateral tonic-clo... ORPHA:330050
Continuous Spikes And Waves During Sleep
Dystonia, Clumsiness, Speech apraxia, Atonic seizure, Focal-onset seizure, Hyperkinetic movements... ORPHA:725
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Cerebral white matter atrophy, Difficulty walking, Hypoplasia of the corpus callosum, C... ORPHA:464282
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Atonic seizure, Bilate... OMIM:618873
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Bilateral tonic-clonic seizure, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Brain Small Vessel Disease 2
Hemiplegia, Porencephalic cyst, Focal-onset seizure, Subcortical heterotopia, Bilateral tonic-clo... OMIM:614483
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Hypoplasia of the corpus callosum, Chorea, Cerebral atrophy, ... ORPHA:88616
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypoplasia of the corpus callosum, Secondary microcephaly, Bilateral tonic-clonic seizure, Microc... OMIM:616281
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Hypoplasia of the corpus callosum, Ataxia, Seizure, Cerebral cortical atrophy, Stereotypy... OMIM:617862
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Dysmetria, Attention defic... OMIM:619191
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Small cerebral cortex, Seizure, Hearing impairment, Cortical d... OMIM:608716
Severe Canavan Disease
Inability to walk, Lethargy, Cerebral white matter atrophy, Megalencephaly, Bilateral tonic-cloni... ORPHA:314911
Alpers-Huttenlocher Syndrome
Progressive spasticity, Spastic paraparesis, Focal-onset seizure, Paraparesis, Bilateral tonic-cl... ORPHA:726
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Landau-Kleffner Syndrome
Generalized clonic seizure, Gait ataxia, Speech apraxia, Non-convulsive status epilepticus withou... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hypoplasia of the corpus callosum, Abnormality of the pinna, Ataxia, Seizure, Cerebral co... OMIM:300983
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (ab... OMIM:619157
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Atonic seizure, Eyelid myoclonus, Abno... ORPHA:2590
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypoplasia of the corpus callosum, Hypertonia, Secondary microcephaly, Seizure, Clonic seizure, P... OMIM:615282
Mental Retardation, Autosomal Dominant 45
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Familial Infantile Myoclonic Epilepsy
Clumsiness, Thick cerebral cortex, Focal-onset seizure, Gait disturbance, Blepharospasm, Ataxia, ... ORPHA:352582
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Seizure, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Progressive Myoclonic Epilepsy Type 3
Febrile seizure (within the age range of 3 months to 6 years), Aplasia/Hypoplasia of the corpus c... ORPHA:263516
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, Dysmetri... OMIM:618090
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Bilateral to... ORPHA:100988
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, F... ORPHA:2382
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Dystonia, Convulsive status epilepticus, Hypoplasia of the corpus callosum, Fo... OMIM:618760
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Upper limb spasticity, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:485350
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Seizure, Myocl... OMIM:615924
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Dystonia, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia... OMIM:617836
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Hypertonia, Bilateral... ORPHA:306
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Bilateral tonic-clonic seizure, Seizure, Dysplastic corpus callosum, Polymicrogyria... ORPHA:250972
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Hypoplasia of the corpus callosum, ... ORPHA:93952
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Intellectual Developmental Disorder, X-Linked 72
Seizure, Stereotypy, Hyperactivity OMIM:300271
Developmental And Epileptic Encephalopathy 30
Seizure, Stereotypy, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:616341
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Seizure, Status epilepticus, Stereotypy, Secondary microcephaly OMIM:617830
N-Acetylaspartate Deficiency
Truncal ataxia, Seizure, Unsteady gait, Stereotypy, Microcephaly OMIM:614063
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Focal-onset seizure, Chorea, Poor coordination, Paroxysmal dyskinesia, Ataxia, Seizure,... OMIM:619150
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Infantile Cerebellar-Retinal Degeneration
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Focal-onset seizure... OMIM:614559
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait ataxia, Hypoplasia of the corpus callosum, Gait imbalance, Bilateral tonic-clonic seizure, S... ORPHA:488635
Myoclonic Epilepsy Of Infancy
Hemiplegia, Febrile seizure (within the age range of 3 months to 6 years), Poor motor coordinatio... ORPHA:86909
Rasmussen Subacute Encephalitis
Generalized convulsive status epilepticus, Bilateral tonic-clonic seizure with generalized onset,... ORPHA:1929
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Aminoacylase 1 Deficiency
Seizure, Cerebral atrophy, Sensorineural hearing impairment, Hyperactivity OMIM:609924
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Seizure, Hyperactivity ORPHA:436151
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Focal-onset seizure, Hypertoni... OMIM:619092
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cerebral atrophy, Seizure, Stereotypy, Microcephaly, Spasticity OMIM:617393
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Stereotypy OMIM:606053
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Mental Retardation, Autosomal Recessive 3
Progressive microcephaly, Hyperactivity OMIM:608443
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Microcephaly, Cortical dysplasia, Bilateral tonic-clonic seizure OMIM:608278
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Spastic diplegia, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, Babinski sign OMIM:619065
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Hypopla... ORPHA:289266
Mental Retardation, Autosomal Recessive 37
Seizure, Hyperactivity, Spasticity OMIM:615493
Developmental And Epileptic Encephalopathy 43
Seizure, Ataxia, Hyperactivity OMIM:617113
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... ORPHA:139426
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Hypointensity of cerebral white matter on MRI, Bilater... ORPHA:363549
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:601068
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Dysm... OMIM:618093
Behavioral Variant Of Frontotemporal Dementia
Abnormality of extrapyramidal motor function, Abnormal cerebral white matter morphology, Gait dis... ORPHA:275864
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Speech apraxia, Hypoplasia of the corpus callosum, Focal-onset seizure, Seizure, Bilateral tonic-... ORPHA:163721
Unilateral Focal Polymicrogyria
Spastic hemiparesis, Poor fine motor coordination, Hemiparesis, Intracerebral periventricular cal... ORPHA:268947
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Seizure, Hyperactivity, Spasticity ORPHA:356996
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Cerebral white matter atrophy, Difficulty walking, Chorea, Bilateral tonic-clonic... ORPHA:369840
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Bilateral tonic-clonic seizure OMIM:269720
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Abnormal cerebral white matter morphology, Ataxia, Bradykinesia, N... ORPHA:248111
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Intellectual Developmental Disorder, X-Linked 101
Seizure, Hyperactivity, Macrotia OMIM:300928
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:79137
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Inability to walk, Corpus callosum atrophy, Atonic seizure, Focal-onset seizu... ORPHA:168491
Mental Retardation, Autosomal Dominant 52
Seizure, Hyperactivity OMIM:617796
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperkinetic movements, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized n... OMIM:271980
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Bilateral toni... ORPHA:457240
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus, Ataxia OMIM:254800
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Generalized tonic seizure, Tremor, Hypoplasia of the corpus callosum, Cerebra... OMIM:612164
Spastic Ataxia 5, Autosomal Recessive
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Spasticity, Oculomotor apraxia... OMIM:614487
Insulin-Like Growth Factor I Deficiency
Microcephaly, Sensorineural hearing impairment, Hyperactivity OMIM:608747
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Pyridoxine-Dependent Epilepsy
Hypoplasia of the corpus callosum, Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic se... ORPHA:3006
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Cerebral atrophy, Seizure, Hyperactivity, Tetraplegia, Microcephaly, Agenes... OMIM:274270
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Macrotia, Hyperkinetic movements, Seizure, Stereotypical hand wringing, Progressive microcephaly ORPHA:397933
Sarcosinemia
Bilateral tonic-clonic seizure, Infantile sensorineural hearing impairment, Tetraparesis, Ataxia ORPHA:3129
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Dystonia, ... ORPHA:79243
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Macrotia, Stereotypy, Hyperactivity, Microcephaly OMIM:615541
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:266100
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy, Hyperactivity, Microce... OMIM:609425
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Pachygyria, Bilateral tonic-clonic seizure ORPHA:329329
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Mental Retardation, Autosomal Dominant 33
Microcephaly, Hyperactivity OMIM:616311
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Hypoplasia of the corpus callosum, ... OMIM:617695
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Oromotor apraxia, Attention deficit hyperactivity disorder, Pachygyria, ... ORPHA:300573
Hyperprolinemia, Type I
Ataxia, Seizure, Status epilepticus, Stereotypy, Hyperactivity OMIM:239500
Glycine Encephalopathy
Lethargy, Seizure, Myoclonus, Hyperactivity, Agenesis of corpus callosum OMIM:605899
Intellectual Developmental Disorder, X-Linked 98
Macrotia, Secondary microcephaly, Spasticity, Ataxia, Status epilepticus, Generalized non-motor (... OMIM:300912
Bilateral Polymicrogyria
Pseudobulbar paralysis, Aplasia/Hypoplasia of the cerebral white matter, Focal-onset seizure, Spa... ORPHA:268940
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Paroxysmal dyskinesia, Bilateral tonic-clonic seizure OMIM:609446
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spasticity, Oculomotor apraxia, Bilateral toni... ORPHA:313772
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, T2 hypointense thalamus, Gait ataxia, Clumsiness, Cerebral atrophy, Ataxia, Bi... ORPHA:1947
Developmental And Epileptic Encephalopathy 79
Hypoplasia of the corpus callosum, Spasticity, Frontotemporal cerebral atrophy, Seizure, Cerebral... OMIM:618559
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Hippocampal atrophy, Focal impaire... OMIM:614418
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Clumsiness, Po... ORPHA:79264
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Seizure, Hyperactivity, Microcephaly, Choreoathetos... OMIM:612716
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Hypoplasi... ORPHA:500180
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Cerebral atrophy, Ankle clonus, Bilateral tonic-clonic seizure, Limb hyperto... OMIM:301058
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Spastic Paraplegia 82, Autosomal Recessive
Focal-onset seizure, Cerebral atrophy, Bilateral tonic-clonic seizure with generalized onset, Bab... OMIM:618770
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Low-set ears, Seizure, Stereotypy, Hyperactivity, Microcephaly, Spasti... OMIM:618718
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Oculomotor apraxia, Bilateral tonic-clonic seizure, Stat... ORPHA:529665
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Cerebral white matter hypoplasia, Seizure, Stereotypical hand wringing, Microce... ORPHA:500545
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Vestibular dysfunction, Prelingual sensorineural he... ORPHA:52368
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Macrotia, Hypoplasia of the corpus callosum, Chorea, Hypertonia, Status epilep... OMIM:617864
Mental Retardation, Autosomal Dominant 7
Thickened helices, Febrile seizure (within the age range of 3 months to 6 years), Incoordination,... OMIM:614104
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Abnormal periventricular white matter morphology, Difficulty walking, Hypoplasia of the... ORPHA:280763
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... ORPHA:228360
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Pachygyria, Impaired tactile sensation, Hypoplasia of the corpus callosum, Focal-onset seizure, H... OMIM:619091
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Inability to walk, Overfolded helix, Bilateral tonic-clonic seizure, Seizure, Polymicrogyria, Lim... ORPHA:488613
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Seizure, Hearing impairment, Cortical dysplasia, Hyperactivity... ORPHA:457260
Usher Syndrome Type 1
Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineural hearing impairment... ORPHA:231169
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia, Seizure ORPHA:3233
Fraxe Intellectual Disability
Clumsiness, Prominent ear helix, Recurrent hand flapping, Hyperactivity, Stereotypical body rocking ORPHA:100973
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Optic Atrophy 11
Macrotia, Hyperkinetic movements, Ataxia, Hearing impairment, Dysmetria, Leukoencephalopathy, Hyp... OMIM:617302
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Seizure precipitated by febrile infection, Abnormal t... ORPHA:363558
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Gait ataxia, Apraxia, Dystonia, Gait disturbance,... ORPHA:3095
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Eating-induced seizure, Anteverted ears, Macrotia, Gait disturbance, Poor coordination, M... ORPHA:544254
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Multifocal seizures, Generalized tonic seizure, Incoordination, Dystonia, ... ORPHA:480864
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Ataxia, Cerebral dysmyelination, Seizu... OMIM:609136
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
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Abnormal periventricular white matter morphology, Spastic paraparesis, Focal-onset seiz... ORPHA:395
Mental Retardation, Autosomal Dominant 34
Bilateral tonic-clonic seizure, Hearing impairment, Stereotypy, Secondary microcephaly, Broad-bas... OMIM:616351
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Distal Monosomy 10Q
Cavum septum pellucidum, Cochlear malformation, Clonus, Poor fine motor coordination, Patent duct... ORPHA:96148
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Inability to walk, Overfolded helix, Macrotia, Hypoplasia of the corpus callosum, Difficulty walk... ORPHA:481152
Autism, Susceptibility To, X-Linked 3
Seizure, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Seizure, Stereotypy OMIM:300495
Autism, Susceptibility To, 8
Seizure, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Seizure, Stereotypy OMIM:300425
Autism
Seizure, Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Stereotypy OMIM:608636
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Cerebral atrophy, Bilateral tonic-clonic seizure ORPHA:457205
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Abnormality of the pinna, Low-set ears, Seizure, Polymicrogyri... OMIM:617751
Mental Retardation, Autosomal Dominant 56
Paraparesis, Ataxia, Seizure, Protruding ear, Secondary microcephaly, Attention deficit hyperacti... OMIM:617854
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Generalized tonic seizure, Occipital cortical atrophy, Hypoplasia of the corpu... ORPHA:411986
Amish Lethal Microcephaly
Spina bifida, Bilateral tonic-clonic seizure, Limb hypertonia, Microcephaly, Agenesis of corpus c... ORPHA:99742
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Cerebral white matter atrophy, Patent ductus arteriosus, Atax... ORPHA:435638
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Abnormal pyramidal sign, Cerebral dysmyelination, Seizure, Bilateral tonic-clonic... ORPHA:101070
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-clonic seizure with generalized onset, C... ORPHA:98795
Ck Syndrome
Pachygyria, Posteriorly rotated ears, Seizure, Polymicrogyria, Hyperactivity, Microcephaly, Abnor... ORPHA:251383
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Focal hemifacial clonic seizure, P... ORPHA:1945
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Macrotia, Cereb... ORPHA:85278
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Seizure, Hyperactivity, Microcephaly OMIM:616977
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mannosidosis, Beta A, Lysosomal
Seizure, Hearing impairment, Hyperactivity OMIM:248510
Xq28 (MECP2) duplication
Progressive spasticity, Inability to walk, Gait ataxia, Macrotia, Hypoplasia of the corpus callos... DECIPHER:45
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... ORPHA:705
Autism Spectrum Disorder Due To Auts2 Deficiency
Hypertonia, Low-set ears, Seizure, Stereotypy, Hyperactivity, Microcephaly, Repetitive compulsive... ORPHA:352490
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Hypoplasia of the corpus callosum, Lower limb hypertonia, Spasticity, Simple... ORPHA:2524
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive extrapyramidal movement disorder, Progressive gait ataxia, Hypoplasia of the corpus c... ORPHA:329308
Pitt-Hopkins-Like Syndrome 1
Focal-onset seizure, Ataxia, Seizure, Cortical dysplasia, Focal cortical dysplasia, Stereotypy, H... OMIM:610042
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Recurrent otitis media, Spasticity, Seizure, Hyperactivity, Microcephaly, Agenesis of corpus call... OMIM:615286
Immunodeficiency 8
Hyperactivity OMIM:615401
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:619000
Lafora Disease
Inability to walk, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal-onset seizu... ORPHA:501
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Intellectual Developmental Disorder, X-Linked 30
Seizure, Microcephaly, Hyperactivity, Macrotia OMIM:300558
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Type II lissencephaly, Spastic diplegia, Torticollis, Sensorineural hearing impairment,... ORPHA:300570
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Hypoplasia of the corpus callosum, Spasticity, Bilateral tonic-clonic seizure,... ORPHA:457351
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Mental Retardation, Autosomal Recessive 61
Hypoplasia of the corpus callosum, Low-set ears, Posteriorly rotated ears, Babinski sign, Hyperac... OMIM:617773
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Lower limb spasticity, Imp... OMIM:619028
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Febrile seizure (within the age range of 3 months to 6 years), Generalize... ORPHA:496641
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Cerebral cortical atrophy, Myoclonus, Babinski sign, Stereotypy, Rigi... OMIM:600795
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Poor motor coordination, Cerebral atrophy, Tetraparesis, Abnormal pyramidal ... ORPHA:363400
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Progressive sensorineural hearing impairment, Hemiparesis, Bilateral tonic-clonic seizure, Bilate... OMIM:540000
Apert Syndrome
Hydrocephalus, Absent septum pellucidum, Conductive hearing impairment, Sensorineural hearing imp... ORPHA:87
X-Linked Non-Syndromic Intellectual Disability
Moderate sensorineural hearing impairment, Bilateral tonic-clonic seizure, Seizure, Generalized n... ORPHA:777
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral white matter atrophy, Focal emotional seizure with laughing, Hypoplasia of the corpus ca... ORPHA:79351
Microphthalmia-Brain Atrophy Syndrome
Multifocal seizures, Corpus callosum atrophy, Spasticity, Tongue thrusting, Focal hyperkinetic se... ORPHA:77299
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Macrotia, Hypoplasia of the corpus callosum, Pain insensitivity, Bilateral toni... ORPHA:364028
Ck Syndrome
Pachygyria, Posteriorly rotated ears, Seizure, Polymicrogyria, Hyperactivity, Microcephaly OMIM:300831
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Seizure, Stereotypy, Microcephaly, Attention deficit hyperactivity disorder OMIM:618906
Early Infantile Epileptic Encephalopathy
Dystonia, Atonic seizure, Hyperactivity, Spasticity, Generalized clonic seizure, Pachygyria, Hypo... ORPHA:1934
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypoplasia of the corpus callosum, Hypertonia, Bilateral tonic-clonic seizure, Seizure, Sensorine... ORPHA:544503
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Hypoplasia of the corpus callosum, Hypertonia, Bilateral tonic-clonic seizure, Low-set ea... ORPHA:447997
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Myoclonus OMIM:607876
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Photosensitive myoclonic sei... OMIM:172500
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Seizure, Stereotypy, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Angelman Syndrome
Inability to walk, Tremor, Atypical absence seizure, Atonic seizure, Ataxia, Bilateral tonic-clon... ORPHA:72
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Gait ataxia, Difficulty walking, Abnormality of the pinna, Seizure, Unsteady gait, Ster... OMIM:617807
Myoclonic Epilepsy Of Lafora
Apraxia, Gait disturbance, Bilateral tonic-clonic seizure, Lafora bodies, Generalized non-motor (... OMIM:254780
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... OMIM:300354
Neuromuscular Oculoauditory Syndrome
Simple ear, Periventricular heterotopia, Bilateral tonic-clonic seizure, Posteriorly rotated ears... OMIM:618733
Xq25 Microduplication Syndrome
Seizure, Hypoplasia of the corpus callosum, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Seizure, Hypoplasia of the corpus callosum, Hyperactivity OMIM:300979
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Macrotia, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, B... OMIM:615802
Myoclonic-Astatic Epilepsy
Tremor, Atonic seizure, Focal-onset seizure, Abnormal pyramidal sign, Ataxia, Simple febrile seiz... ORPHA:1942
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Cerebral palsy, Bilateral tonic-clonic seizure, Seizure, Focal myoclonic seiz... ORPHA:369929
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertonia, Cerebral atrophy, Bilateral tonic-clonic seizure, Seizure, Opisthotonus, Polymicrogyr... OMIM:615501
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Spinocerebellar Ataxia Type 36
Vertigo, Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculati... ORPHA:276198
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Hypoplasia of the corpus callosum, Spastic tetraparesis, Bilateral tonic-clonic seizure, Low-set ... ORPHA:423479
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Developmental And Epileptic Encephalopathy 95
Inability to walk, Multifocal seizures, Thickened helices, Focal-onset seizure, Gait disturbance,... OMIM:618143
Japanese Encephalitis
Pill-rolling tremor, Dystonia, Abnormality of the internal capsule, Abnormality of extrapyramidal... ORPHA:79139
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Nocturnal seizures, Paroxysmal dystonia, Bilateral tonic-clonic seizure, Stereotypy, Focal hyperk... ORPHA:98784
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Hypoplasia of the corpus callosum, Seizure, Cerebral cortical atrophy, Recurrent hand flapping, S... OMIM:618859
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Generalized tonic seizure, Upper limb spasticity, Hypoplasia of the corpus cal... OMIM:617193
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Seizure, Microcephaly, Hyperactivity OMIM:300434
Hermansky-Pudlak Syndrome 10
Dystonia, Macrotia, Cerebral atrophy, Bilateral tonic-clonic seizure, Low-set ears, Focal myoclon... OMIM:617050
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Foc... OMIM:619338
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Seizure, Hearing impairment, Hyperactivity, Microcephaly, Broa... OMIM:300958
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Difficulty walking, Hypoplasia of the corpus callosum, Gait disturbance, Dilation of lateral vent... ORPHA:488627
Seizures, Benign Familial Infantile, 3
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... OMIM:607745
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
X-Linked Intellectual Disability, Stocco Dos Santos Type
Seizure, Hyperactivity ORPHA:85288
Ring Chromosome 21 Syndrome
Holoprosencephaly, Gait disturbance, Spasticity, Simple febrile seizure, Seizure, Bilateral tonic... ORPHA:1445
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Seizure, Cerebral atrophy, Recurrent hand flapping, Macrotia OMIM:617268
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Cerebral cortica... ORPHA:369939
Mental Retardation, Autosomal Recessive 58
Spastic diplegia, Choreoathetosis, Stereotypy OMIM:617270
Cdkl5-Deficiency Disorder
Generalized tonic seizure, Difficulty walking, Focal-onset seizure, Gait disturbance, Impaired pa... ORPHA:505652
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Microcephaly, Sensorineural hearing impairment, Hyperactivity OMIM:618342
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Punding, Myoclonic absence seizure... ORPHA:64280
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Pontocerebellar Hypoplasia, Type 2E
Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy, Secondary microcephaly, Opisthot... OMIM:615851
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Hoffmann sign, Apraxia, Abnormal periventricular white matter morphology, Diff... ORPHA:139396
4Q21 Microdeletion Syndrome
Tremor, Low-set ears, Seizure, Hearing impairment, Stereotypy, Agenesis of corpus callosum ORPHA:238750
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Pachygyria, Hypoplasia of the corpus callosum, Chorea, Seizure, Protruding ear... OMIM:613454
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, Seizure, Cessation of head growth, Hyperactivity, Broad-based gait ORPHA:411515
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Pachygyria, Hypoplasi... ORPHA:513456
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Corpus callosum atrophy, Spastic tetraparesis, Bilateral tonic-clonic seizure, Leukoencephalopath... OMIM:608809
Phenylketonuria
Seizure, Cerebral calcification, Hyperactivity, Microcephaly, Attention deficit hyperactivity dis... OMIM:261600
Mend Syndrome
Hypertonia, Low-set ears, Seizure, Hyperactivity, Hydrocephalus OMIM:300960
Mitochondrial Dna-Associated Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Dystonia, Chorea, Hypertonia, Spasticity... ORPHA:255210
Developmental And Epileptic Encephalopathy 87
Hypertonia, Cerebral atrophy, Seizure, Recurrent hand flapping, Infantile spasms OMIM:618916
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Hyperactivity, Chorea, Hypert... OMIM:610217
X-Linked Intellectual Disability, Cantagrel Type
Hypoplasia of the corpus callosum, Tetraparesis, Seizure, Cerebral cortical atrophy, Stereotypy ORPHA:85277
Choreoacanthocytosis
Hypertonia, Head titubation, Cerebral cortical atrophy, Progressive inability to walk, Falls, Hyp... ORPHA:2388
Lamb-Shaffer Syndrome
Ataxia, Seizure, Stereotypy, Upper motor neuron dysfunction, Hyperactivity, Microcephaly ORPHA:530983
Biotinidase Deficiency
Lethargy, Spastic paraparesis, Ataxia, Bilateral tonic-clonic seizure, Seizure, Hearing impairmen... ORPHA:79241
Mental Retardation, Autosomal Recessive 41
Seizure, Stereotypy OMIM:615637
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Macrotia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Stereotyp... ORPHA:391307
Optic Atrophy-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Seizure, Hearing impairment, Abnormal hippocampus morphology, ... ORPHA:401777
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormality of earlobe, Abnormal periventricular white matter morphology, Hypoplasia of the corpu... ORPHA:500159
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Bilateral tonic-clonic seizure, Dilation of lateral ventricles OMIM:619278
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Stereotypy, Babinski sign, Amyotrophic lateral sclerosis, Spasticity OMIM:612069
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Le... ORPHA:42
Mental Retardation, Autosomal Recessive 13
Seizure, Hypoplasia of the corpus callosum, Secondary microcephaly, Hyperactivity OMIM:613192
Fragile X Syndrome
Seizure, Macrotia, Hyperactivity, Periventricular heterotopia OMIM:300624
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the outer ear, Seizure, Hearing impai... OMIM:182290
1Q44 Microdeletion Syndrome
Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Bilateral tonic-clonic seizure ORPHA:238769
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Posteriorly rotated ears, Seizure, Hyperactivity, Microcephaly, Microtia OMIM:618089
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Inability to walk, Macrotia, Pain insensitivity, Chorea, Ataxia, Low-set ... OMIM:300260
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Seizure, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling ga... ORPHA:3077
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Cerebral atrophy, Low-set ears, Seizure, Opisthotonus, Myoclonus,... OMIM:103050
Radio-Tartaglia Syndrome
Tremor, Gray matter heterotopia, Conductive hearing impairment, Gait imbalance, Ataxia, Low-set e... OMIM:619312
Xq21 Microdeletion Syndrome
Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Pituitary hypot... ORPHA:1435
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Hypoplasia of the corpus callosum, Gait disturbance, Seizure, Stereotypy, Poor hand-eye... OMIM:300352
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, Seizure, Hyperactivity, Microcephaly, Large earlobe OMIM:616809
Coffin-Siris Syndrome 6
Conductive hearing impairment, Low-set, posteriorly rotated ears, Tics, Periventricular leukomala... OMIM:617808
Pelger-Huet Anomaly
Seizure, Recurrent otitis media, Lower limb hypertonia, Bilateral tonic-clonic seizure OMIM:169400
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Low-set ears, Stereotypy, Impaired pain sensation, Microcephaly OMIM:616579
Melas
Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the cerebral white matter, Focal-onset s... ORPHA:550
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormality of the antihelix, Seizure, Protruding ear, Stereotypy, Microcephaly, Agenesis of corp... ORPHA:261144
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Seizure, Stereotypy, Hyperactivity, Microcephaly ORPHA:3306
Kohlschutter-Tonz Syndrome-Like
Focal myoclonic seizure, Spasticity, Generalized clonic seizure, Upper limb spasticity, Ataxia, S... OMIM:619229
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Stereotypy, Speech apraxia OMIM:613670
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Low-set ears, Dysplastic corpus callosum, Seizure, Stereotypy, Microcephaly... OMIM:619103
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Seizure, Hearing impairment, Stereotypy, Hyperactivity, Microc... OMIM:610883
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Microcephaly, Hypertonia, Bilateral tonic-clonic seizure ORPHA:79350
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Hyperactivity, Hypoplasia of the corpus callosum, Ataxia, Seizure, Cessation of head grow... ORPHA:98794
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Microcephaly, Lethargy, Hepatocellular necrosis, Bilateral tonic-clonic seizure OMIM:201475
Rubinstein-Taybi Syndrome 2
Microcephaly, Posterior helix pit, Hyperactivity OMIM:613684
Mental Retardation, Autosomal Recessive 38
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Unsteady gait, Recurrent ... OMIM:615516
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Upper limb spasticity, Lower limb spasticity, S... OMIM:609727
2Q23.1 Microdeletion Syndrome
Ataxia, Seizure, Stereotypy, Hyperactivity, Microcephaly ORPHA:228402
Shukla-Vernon Syndrome
Seizure, Attention deficit hyperactivity disorder, Stereotypy, Broad-based gait OMIM:301029
Coffin-Siris Syndrome 8
Seizure, Hyperactivity OMIM:618362
Hyperphosphatasia-Intellectual Disability Syndrome
Thickened helices, Gait disturbance, Oculomotor apraxia, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:247262
Infantile Neuroaxonal Dystrophy
Dystonia, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Spastic tetraparesi... ORPHA:35069
Sandhoff Disease
Impaired temperature sensation, Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Exagge... OMIM:268800
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Seizure, Hyperactivity, Microcephaly, Athetosis ORPHA:52503
Snijders Blok-Campeau Syndrome
Speech apraxia, Low-set ears, Unsteady gait, Stereotypy, Broad-based gait OMIM:618205
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Hypoplasia of the corpus callosum, Hypertonia, Seizure, Bilateral tonic-clonic seizure with gener... OMIM:619076
5Q14.3 Microdeletion Syndrome
Seizure, Hypoplasia of the corpus callosum, Stereotypy, Frontal cortical atrophy ORPHA:228384
22Q11.2 Duplication Syndrome
Seizure, Anterior creases of earlobe, Hearing impairment, Stereotypy, Microcephaly, Attention def... ORPHA:1727
Alternating Hemiplegia Of Childhood
Tremor, Episodic hemiplegia, Dystonia, Rigidity, Chorea, Paroxysmal dyskinesia, Abnormal pyramida... ORPHA:2131
Coffin-Siris Syndrome 7
Macrotia, Recurrent otitis media, Low-set ears, Posteriorly rotated ears, Hearing impairment, Hyp... OMIM:618027
Hallermann-Streiff Syndrome
Spina bifida, Bilateral tonic-clonic seizure, Low-set ears, Hyperactivity, Microcephaly, Choreoat... OMIM:234100
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Hyperactivity, Progressive microcephaly, Broad-based gait OMIM:617865
Rett Syndrome
Limb apraxia, Inability to walk, Dystonia, Difficulty walking, Gait disturbance, Bradykinesia, Se... ORPHA:778
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Low-set ears, Posteriorly rotated ears, Seizure, Hyperactivity, Decreased res... OMIM:601853
Charge Syndrome
Hypoplasia of the semicircular canal, Overfolded helix, Low-set, posteriorly rotated ears, Holopr... ORPHA:138
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Obesity, Hyperphagia, And Developmental Delay
Seizure, Stereotypy OMIM:613886
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Diffuse white matter abnormalities, Gait ataxia, Macrotia, Difficulty walking, Low-set, posterior... ORPHA:457359
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Mosaic Variegated Aneuploidy Syndrome 1
Hypodysplasia of the corpus callosum, Hydrocephalus, Bilateral tonic-clonic seizure, Low-set ears... OMIM:257300
Alazami-Yuan Syndrome
Microcephaly, Hyperactivity OMIM:617126
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow internal auditory canal, Holoprosencephaly, Low-set, posteriorly rotated ears, Synotia, Ag... ORPHA:990
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Ataxia, Seizure, Stereotypy, Microcephaly, Paraplegia ORPHA:927
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Dystonia, Apraxia, Clumsiness, Incoordination, Hyperactivity, Chorea, El... ORPHA:209905
Chromosome 5P13 Duplication Syndrome
Low-set ears, Seizure, Agenesis of corpus callosum, Stereotypy OMIM:613174
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Hypoplastic helices, Recurrent otitis media, Seizure, Abnormality of the ear, R... ORPHA:391372
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal periventricular white matter morphology, Periventricular heterotopia, Hypertonia, Cortic... ORPHA:468631
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Truncal ataxia, Hypoplasia of the corpus callosum, Spastic gait, Spastic tetraplegia, Dysmetria, ... OMIM:619121
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Seizure, Tonic seizure, Hyperactivity, Microcephaly, Infantile spasms OMIM:619239
Congenital Insensitivity To Pain With Severe Intellectual Disability
Pain insensitivity, Bilateral tonic-clonic seizure, Impaired tactile sensation ORPHA:453510
Hyperlysinemia
Tremor, Clumsiness, Hypoplastic helices, Poor motor coordination, Hypoplasia of the antihelix, Sp... ORPHA:2203
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Seizure, Hyperactivity OMIM:300143
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Poor motor coordination, Ataxia, Low-set ears, Cerebral cortical atrophy, Seizure, Protruding ear... OMIM:614756
Blepharophimosis-Impaired Intellectual Development Syndrome
Patent ductus arteriosus, Low-set ears, Posteriorly rotated ears, Seizure, Stereotypy, Thin corpu... OMIM:619293
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Spastic tetraplegia, Cerebral palsy, Bilateral tonic-clonic seizure OMIM:615474
48,Xxyy Syndrome
Tremor, Chronic otitis media, Ataxia, Seizure, Stereotypy, Attention deficit hyperactivity disorder ORPHA:10
X-Linked Adrenoleukodystrophy
Incoordination, Clumsiness, Paraparesis, Gait disturbance, Hemiparesis, Paralysis, Somatic sensor... ORPHA:43
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Helsmoortel-Van Der Aa Syndrome
Low-set, posteriorly rotated ears, Seizure, Stereotypy, Hyperactivity, Decreased response to grow... OMIM:615873
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Atonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure with generalized onset, Microce... OMIM:619059
D-Bifunctional Protein Deficiency
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Cereb... OMIM:261515
Angelman Syndrome Due To A Point Mutation
Ataxia, Seizure, Tongue thrusting, Cessation of head growth, Recurrent hand flapping, Secondary m... ORPHA:411511
Combined Oxidative Phosphorylation Defect Type 29
Primary microcephaly, Myoclonic spasms, Poor coordination, Bilateral tonic-clonic seizure ORPHA:478029
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Conductive hearing impairment, Paroxysmal dyskinesia, Seizure, Sensorin... ORPHA:261197
Sotos Syndrome 3
Hyperactivity OMIM:617169
Microcephaly 26, Primary, Autosomal Dominant
Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Hypoplasia of the corp... OMIM:619179
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Head tremor, Difficulty walking, Progressive cerebellar ataxi... ORPHA:95433
47,Xyy Syndrome
Increased circulating gonadotropin level, Low-set ears, Seizure, Hyperactivity, Hydrocephalus, At... ORPHA:8
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Microtia
Anotia, Hypoplastic helices, Holoprosencephaly, Atresia of the external auditory canal, Abnormali... ORPHA:83463
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Prominent antihelix, Febrile seizure (within the age range of 3 months to 6 years), Conductive he... ORPHA:466943
Megalocornea-Intellectual Disability Syndrome
Ataxia, Seizure, Sensorineural hearing impairment, Protruding ear, Stereotypy, Microcephaly ORPHA:2479
Mental Retardation, X-Linked 77
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity OMIM:300454
Phelan-Mcdermid Syndrome
Abnormal periventricular white matter morphology, Macrotia, Patent ductus arteriosus, Seizure, He... OMIM:606232
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Abnormal cerebral white matter morphology, Ataxia, Abnormal corpus callo... ORPHA:457279
Dilated Cardiomyopathy With Ataxia
Dystonia, Bilateral basal ganglia lesions, Ataxia, Action tremor, Seizure, Lower limb spasticity,... ORPHA:66634
Developmental And Epileptic Encephalopathy 89
Dystonia, Asymmetry of the ears, Hypoplasia of the corpus callosum, Hypertonia, Cerebral atrophy,... OMIM:619124
Rhizomelic Chondrodysplasia Punctata, Type 5
Seizure, Microcephaly, Convulsive status epilepticus, Broad-based gait OMIM:616716
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Generalized ton... ORPHA:459070
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Focal-onset seizure, Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Seizu... ORPHA:457485
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Broad-based gait, Hypoplasia of th... ORPHA:268261
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Macrotia, Recurrent otitis media, Seizure, Recurrent hand flapping, Stereotypy, Hyperactivity, At... ORPHA:449291
Gm1 Gangliosidosis
Tremor, Dystonia, Macrotia, Abnormality of extrapyramidal motor function, Abnormal cerebral white... ORPHA:354
Developmental And Epileptic Encephalopathy 2
Inability to walk, Multifocal seizures, Seizure, Infantile spasms, Myoclonus, Stereotypy, Progres... OMIM:300672
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Poor coordination, Ataxia, Low-set ears, Posteriorly rotated ears, Seizure, Hyperactivity, Spasti... OMIM:618430
Cri-Du-Chat Syndrome
Difficulty walking, Hypertonia, Abnormality of the pinna, Low-set ears, Hearing impairment, Steno... OMIM:123450
Clark-Baraitser Syndrome
Seizure, Hyperactivity OMIM:617752
Niemann-Pick Disease, Type C2
Dystonia, Neurofibrillary tangles, Ataxia, Seizure, Stereotypy, Cataplexy, Spasticity OMIM:607625
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Hypertonia, Cupped ear, Stereotypy, Cerebral palsy, Dilation o... OMIM:618914
Oliver Syndrome
Microcephaly, Small earlobe, Absent earlobe, Bilateral tonic-clonic seizure ORPHA:2920
Chromosome 2Q37 Deletion Syndrome
Seizure, Pain insensitivity, Sensorineural hearing impairment, Hyperactivity OMIM:600430
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Macrotia, Seizure, Hyperactivity, Spasticity OMIM:300486
Brooks-Wisniewski-Brown syndrome
Cerebral atrophy, Spastic diplegia, Poor coordination, Low-set ears, Cupped ear, Posteriorly rota... OMIM:300612
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Conductive hearing impairment, Gait disturbance, Chron... ORPHA:819
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Low-set ears, Seizure, Hearing impairment, Hyperactivity, Pineal cyst OMIM:617516
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Intellectual Disability-Strabismus Syndrome
Macrotia, Hypoplasia of the corpus callosum, Recurrent otitis media, Gait disturbance, Patent duc... ORPHA:363528
Distal Xq28 Microduplication Syndrome
Absent antihelix, Patent ductus arteriosus, Microtia, Microcephaly, Attention deficit hyperactivi... ORPHA:293939
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Patent ductus arteriosus, Stereotypy OMIM:617044
Angelman Syndrome
Clumsiness, Progressive gait ataxia, Seizure, Cerebral cortical atrophy, Limb tremor, Hyperactivi... OMIM:105830
19P13.3 Microduplication Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Cerebral atrophy, Low-set ears, Po... ORPHA:447980
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus, Low-set ears, Seizure, Sensorineural hearing impairment, Protruding ear... OMIM:609625
Kinsship Syndrome
Focal-onset seizure, Spastic tetraparesis, Bilateral tonic-clonic seizure, Low-set ears, Primary ... OMIM:619297
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Seizure, Stereotypy ORPHA:319671
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Prominent antihelix, Microcephaly, Stereotypy OMIM:618825
White-Sutton Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Incoordination, Hypoplasia of the ... ORPHA:468678
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Spastic paraparesis, Hypertonia, Ataxia, Sensorineural hearing i... ORPHA:760
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Elevated circulating follicle stim... ORPHA:3044
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Limb hypertonia, Torticollis, Exaggerated startle response,... OMIM:608643
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment, Hyperactivity, Micr... ORPHA:73272
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Eyelid apraxia, Tremor, Dystonia, Rigidity, Motor ti... OMIM:234200
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure, Macrotia ORPHA:2976
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Abnormally folded helix, Low-set ears, Seizure, Hyperactivity, Agenesis of corpus callosum OMIM:309520
Hyperlysinemia, Type I
Seizure, Hyperactivity OMIM:238700
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Abnormal cerebral morpholog... OMIM:113650
Noonan Syndrome
Low-set, posteriorly rotated ears, Thickened helices, Sensorineural hearing impairment, Aplasia o... ORPHA:648
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Multifocal seizures, Overfolded helix, Hypoplasia of the corpus call... OMIM:301044
Isolated Permanent Neonatal Diabetes Mellitus
Apraxia, Bilateral tonic-clonic seizure, Ataxia, Hearing impairment, Generalized myoclonic seizure ORPHA:99885
Seckel Syndrome 1
Pachygyria, Abnormality of the pinna, Low-set ears, Seizure, Large basal ganglia, Hyperactivity, ... OMIM:210600
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Low-set ears, Seizure, Tongue thrusting, Hyperactivity, Microcephaly, Ste... ORPHA:261323
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Bilateral tonic-clonic seizure, Posteriorly rotated ears, Simple febrile sei... ORPHA:466950
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Paraparesis, Hemiparesis, Bilateral tonic-clonic seizure, Microcephaly, Paraplegia ORPHA:79124
Gaucher Disease
Tremor, Abnormality of extrapyramidal motor function, Oculomotor apraxia, Bilateral tonic-clonic ... ORPHA:355
Bainbridge-Ropers Syndrome
Inability to walk, Abnormal cerebral white matter morphology, Hypertonia, Seizure, Recurrent hand... ORPHA:352577
Congenital Disorder Of Glycosylation, Type Iia
Macrotia, Hypertonia, Posteriorly rotated ears, Seizure, Unsteady gait, Sensorineural hearing imp... OMIM:212066
W Syndrome
Bilateral tonic-clonic seizure, Spasticity ORPHA:2804
Developmental And Speech Delay Due To Sox5 Deficiency
Seizure, Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Mucopolysaccharidosis, Type Iiia
Seizure, Hearing impairment, Hyperactivity OMIM:252900
7Q11.23 Microduplication Syndrome
Large earlobe, Hyperactivity, Overfolded helix, Low-set, posteriorly rotated ears, Chronic otitis... ORPHA:96121
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Anencephaly, Posteriorly rotated ears, Seizure, Hearing impairment, Hyp... OMIM:619148
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized tonic seizure, Patent ductus arteriosus, Bilateral tonic-clonic seizure, Low-set ears... ORPHA:369837
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Seizure, Stereotypy, Microcephaly, Attention deficit hyperactivity... ORPHA:1001
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment, Torticollis ORPHA:73
Macrocephaly-Developmental Delay Syndrome
Seizure, Stereotypy, Abnormal speech discrimination ORPHA:397612
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Hypoplasia of the corpus callosum, Low-set ears, External ear malf... ORPHA:254346
X-Linked Intellectual Disability, Cabezas Type
Tremor, Seizure, Hyperactivity, Microcephaly, Abnormality of earlobe, Broad-based gait ORPHA:85293
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Isotretinoin-Like Syndrome
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Patent ductu... ORPHA:2306
Joubert Syndrome 1
Oculomotor apraxia, Ataxia, Low-set ears, Hemifacial spasm, Hyperactivity, Microcephaly, Occipita... OMIM:213300
Kleefstra Syndrome 1
Abnormality of the pinna, Seizure, Hearing impairment, Stereotypy, Microcephaly OMIM:610253
Glass Syndrome
Low-set ears, Seizure, Hyperactivity, Microcephaly, Broad-based gait OMIM:612313
Pyruvate Carboxylase Deficiency
Generalized clonic seizure, Basal ganglia gliosis, Tremor, Agenesis of corpus callosum, Cerebral ... ORPHA:3008
Mucopolysaccharidosis, Type Iiib
Seizure, Hearing impairment, Hyperactivity OMIM:252920
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Speech apraxia, Macrotia, Abnormality of the pinna, Seizure, Hyperactivity OMIM:618505
X Small Rings
Seizure, Protruding ear, Bilateral tonic-clonic seizure ORPHA:96201
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Seizure, Primary microcephaly, Stereotypy, Secondary microcephaly, Attention... ORPHA:476126
Hypotonia, Ataxia, And Delayed Development Syndrome
Small earlobe, Gait ataxia, Truncal ataxia, Overfolded helix, Speech apraxia, Pain insensitivity,... OMIM:617330
Autism, Susceptibility To, 3
Seizure, Stereotypy OMIM:608049
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Gait disturbance, Patent ductus arteriosus, Abnormality of neu... ORPHA:464311
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Seizure, Hyperactivity OMIM:615824
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Macrotia, Ataxia, Low-set ears, Hearing impairment, Hyperact... ORPHA:369891
16P11.2P12.2 Microdeletion Syndrome
Tics, Chronic otitis media, Abnormality of the pinna, Low-set ears, Hearing impairment, Impaired ... ORPHA:261211
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Tics, Abnormal cerebral white matter morphology, Generalized non-motor (absence) seizure, Lower l... ORPHA:363686
Intellectual Disability, Birk-Barel Type
Tongue fasciculations, Protruding ear, Hyperactivity ORPHA:166108
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Parkinsonism, Repetitiv... OMIM:607485
Mucopolysaccharidosis, Type Iiid