Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Increased neuronal autofluoresc... |
OMIM:610003 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... |
OMIM:618141 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... |
OMIM:616346 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizure, Focal-... |
ORPHA:725 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... |
OMIM:619970 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, S... |
OMIM:245570 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic s... |
OMIM:617113 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Dravet Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Jeavons Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, EEG w... |
ORPHA:139431 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, EEG with generalized epileptiform dis... |
OMIM:616187 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un... |
OMIM:616409 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, EEG with spike-wave complexes,... |
OMIM:607682 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Atrophy/Dege... |
OMIM:617862 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... |
OMIM:616230 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizur... |
OMIM:617831 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Focal motor seizure, Generalized non... |
OMIM:617665 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... |
OMIM:619605 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy, EEG abnormality, Bilateral tonic-clonic seizure with focal onset, Myoclonic s... |
OMIM:617643 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:601068 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G... |
OMIM:271980 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Abnormal ... |
OMIM:162350 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality, Seizure, Tr... |
OMIM:608636 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Seizure |
OMIM:614023 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:611726 |
Developmental And Epileptic Encephalopathy 59 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Multi... |
OMIM:617904 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features... |
OMIM:615400 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... |
OMIM:619606 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generaliz... |
ORPHA:36387 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (abs... |
OMIM:617810 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor ... |
OMIM:254800 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Attention ... |
OMIM:619639 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic status... |
OMIM:614018 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, EEG abnormality, Agitation, Status epileptic... |
OMIM:617171 |
Juvenile Myoclonic Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Photosensitive tonic-clonic seizure... |
ORPHA:307 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Congenital cont... |
OMIM:225753 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Ataxia, Aggressive behavior, Bilateral tonic-clonic seizure |
OMIM:617709 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... |
OMIM:613608 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Cerebral atrophy, Seizure, Neurodegeneration |
OMIM:300894 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Hydrocephalus, Status... |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Foc... |
OMIM:617711 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 16 |
|
Short stature, Multifocal epileptiform discharges, Myoclonic seizure, Atypical absence seizure, M... |
OMIM:618596 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Hemimegalencephaly |
|
EEG with polyspike wave complexes, Interictal EEG abnormality, Epileptic spasm, EEG with burst su... |
ORPHA:99802 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Seizure, Gliosis, Global brain atrophy |
OMIM:236792 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset... |
OMIM:615362 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, ... |
OMIM:618090 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Limb ataxia, Gait ataxia, Growth delay |
OMIM:614322 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, EEG abnormality, Neurodegeneration, Generalized myo... |
OMIM:610951 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... |
OMIM:617391 |
Huntington Disease |
|
Cerebellar atrophy, Gait ataxia, Seizure, Gliosis, Neuronal loss in central nervous system |
OMIM:143100 |
Developmental And Epileptic Encephalopathy 24 |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Developmental And Epileptic Encephalopathy 14 |
|
Focal autonomic seizure, Focal motor seizure, Status epilepticus, Gliosis, Neuronal loss in centr... |
OMIM:614959 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o... |
ORPHA:101070 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Episodic Ataxia, Type 5 |
|
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, EEG with generalized spikes, Myo... |
OMIM:613855 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, EEG wit... |
ORPHA:86909 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Inability to walk, ... |
ORPHA:330050 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Bilateral tonic-clonic seizure, Chiari type I malformation, EEG abnormalit... |
OMIM:617836 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Developmental And Epileptic Encephalopathy 19 |
|
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, EEG with photoparoxysmal respo... |
OMIM:615744 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... |
OMIM:609446 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Small for gestational age, Inability to... |
ORPHA:79243 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Brain atrophy, Myoclonic absence seizure |
OMIM:612621 |
Dravet Syndrome |
|
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Interictal epileptiform activity, S... |
ORPHA:33069 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Restlessness, Epileptic spasm, Focal-onset seizure, EEG with burst ... |
ORPHA:3006 |
Developmental And Epileptic Encephalopathy 57 |
|
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Seizure, Atypical absence seizure, Generalized my... |
OMIM:617771 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal EEG dischar... |
ORPHA:263516 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Aggressive behavior, Limb... |
OMIM:607136 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Episodic Ataxia, Type 9 |
|
Cerebellar edema, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status ... |
OMIM:618924 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... |
ORPHA:2590 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity grade 4, Hy... |
ORPHA:168491 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... |
OMIM:616981 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic ... |
OMIM:616421 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a... |
ORPHA:488635 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Inguinal hernia, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive beha... |
ORPHA:485350 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons... |
OMIM:204300 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Seizure, Shuffling gait, Myoclonus, Brain atrophy, Shor... |
ORPHA:391411 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Foc... |
OMIM:617166 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu... |
OMIM:301020 |
Kohlschutter-Tonz Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... |
OMIM:226750 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Seizure, Neurodegeneration |
OMIM:613068 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Hydrocephalus, Generalized non-motor (absence) seizure, Obesity, Cerebral at... |
OMIM:616521 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Hydrocephalus, Seizure, Cerebellar hypoplasia, Hydranencephaly, Intrauterine growth ret... |
OMIM:225790 |
Polymicrogyria, Bilateral Temporooccipital |
|
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... |
OMIM:612691 |
Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Corpus callosum atrophy, Seizure, Gait disturbance, Shuffling gait, Gliosis, Dysphagia, Neuronal ... |
OMIM:221820 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Hypoplasia of the pons, Inability to walk, Abnormal repetitive mannerisms, Gene... |
ORPHA:411986 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seiz... |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... |
OMIM:616341 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Oral-... |
ORPHA:208447 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Intrauterine growth r... |
OMIM:617082 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Choreoathetosis, Status epile... |
OMIM:609056 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic... |
OMIM:619913 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Cerebral atrophy, Seizure, Lateral ventricle dilatation, EE... |
OMIM:221770 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Atrophy/Degeneration affect... |
OMIM:617493 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
Unilateral Focal Polymicrogyria |
|
EEG with parietal focal spikes, EEG with frontal focal spikes, Bilateral tonic-clonic seizure wit... |
ORPHA:268947 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Bilateral tonic-clonic seizure, Akinesia, Focal motor seizure, Seizure, Freezing of gait |
OMIM:619911 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Bilateral tonic-clonic seizure, Seizure, Agenesis of corpus... |
OMIM:611603 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Abnormal cerebellum morphology, Generalized non-motor (absence) seizure, Growth delay, Di... |
OMIM:618242 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, EEG with burst suppression, Myoclonic seizure,... |
ORPHA:168486 |
Rasmussen Subacute Encephalitis |
|
Subcortical cerebral atrophy, EEG with focal spikes, Interictal epileptiform activity, Hyperactiv... |
ORPHA:1929 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, EE... |
OMIM:617976 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Increased extrane... |
OMIM:204200 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Generalized-onset seizure, Akinesia, Choreoathetosis, Truncal ataxia, Failure... |
OMIM:618249 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Dysmetria, Gait ataxia, Weight loss, Seizure, EEG abnormality, ... |
ORPHA:157941 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Inability to walk, Foc... |
OMIM:616645 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
OMIM:608105 |
Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G... |
OMIM:605021 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Generalized non-motor (absence) seizure, Obesity, Seizure, Abnormal repetitive manner... |
OMIM:613886 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Flexion contracture, Focal tonic seizure, ... |
OMIM:617106 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Ataxia, Short stature, Unsteady gait, Dysmetria, Gait ataxia, Limb atax... |
OMIM:213200 |
Developmental And Epileptic Encephalopathy 71 |
|
Seizure, EEG with burst suppression, Gliosis |
OMIM:618328 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Cerebral atrophy,... |
OMIM:256600 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons, Focal-onset seizure, My... |
OMIM:619301 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:79137 |
Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Athetosis, Decre... |
OMIM:614559 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Diffuse cerebral atrophy, Short stature, Bilateral tonic-clonic seizure, Small f... |
ORPHA:289266 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... |
OMIM:619302 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Athetosis, Seizure, S... |
ORPHA:382 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... |
OMIM:616139 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Flexion contracture, Neonatal death, Intraute... |
OMIM:618237 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to... |
OMIM:618012 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... |
OMIM:617350 |
Foxg1 Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset s... |
ORPHA:561854 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Overweight, Seizure, Gait disturbance, Gliosis, Ab... |
ORPHA:457240 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop... |
OMIM:618497 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619428 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Aggressive behavior, Gait ataxia, Gait disturbance, Gait imba... |
OMIM:618369 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Dysplastic corpus callosum, Unsteady g... |
OMIM:620317 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with focal sharp waves,... |
ORPHA:163721 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-... |
OMIM:618170 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Epileptic spasm, EEG with focal spike waves, Bilateral tonic-c... |
ORPHA:1942 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Aggressive behavior, Generalized non-motor (absence) seizure, Choreoathetosis, Seizure |
ORPHA:98811 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Seizure, Gliosis, EEG abnormality |
OMIM:613002 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Seizure, Gait disturbance, Myoclonus, Dysphagia, Hypokinesia |
OMIM:606693 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Dysmetria, Gait ataxia, Dys... |
OMIM:618093 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Agenesis of corpus callosum, Cer... |
OMIM:615095 |
Huntington Disease |
|
Caudate atrophy, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Polyphagia, C... |
ORPHA:399 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ... |
OMIM:300558 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Seizure, Gliosis, Myoclonus, Neuronal loss in central nervous system |
OMIM:604218 |
Diaminopentanuria |
|
Neurodegeneration, Seizure, Ataxia |
OMIM:222350 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking, Attention defic... |
OMIM:619191 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia,... |
OMIM:607454 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Seizure, Scarring, Generalized non-motor (absence) seizure, Aggressive behavior |
OMIM:247100 |
Familial Infantile Myoclonic Epilepsy |
|
Interictal EEG abnormality, Cerebellar atrophy, EEG with focal spike waves, Bilateral tonic-cloni... |
ORPHA:352582 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature... |
OMIM:300957 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer... |
OMIM:609924 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus, Atrophy/Degeneration affecting the brainstem,... |
OMIM:620200 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, EEG abnormality, Dysdiadoc... |
ORPHA:313772 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Generalized-onset seizure, Generalized non-motor (absen... |
ORPHA:35878 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Impaired tandem gait, Seizu... |
OMIM:300423 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Short stature, Dorsocervical fat pad, Generalized non-motor (absence) seizure, Seizure, Delayed t... |
OMIM:616033 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Failure to thrive, Diffuse cerebral atrophy, Small for gestational age, Flexi... |
OMIM:214150 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Inability to walk, Dysphagia, Cerebral atrophy, Seizure, Neurodegener... |
OMIM:617672 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Hypsarrh... |
OMIM:615859 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Seizure, Generalized-onset seizure, Hypokinesia |
OMIM:300816 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... |
OMIM:620028 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Akinesia, Growth delay, Seizure, Failure to thrive, Generalized tonic ... |
OMIM:619147 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Hypsarrhythmia, Status epilepticus, Myoclonus |
OMIM:617507 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Global bra... |
OMIM:618470 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Cerebellar vermis atrophy, Akinesia, Gait ataxia |
ORPHA:98773 |
Febrile Seizures, Familial, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:611634 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Growth delay, ... |
OMIM:614946 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Episo... |
ORPHA:140927 |
Dpagt1-Cdg |
|
Epileptic spasm, Ataxia, Lipodystrophy, Akinesia, Aggressive behavior, Inability to walk, Abnorma... |
ORPHA:86309 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Cerebral atrophy, Growth dela... |
ORPHA:209370 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Flexion contracture, Generalized non-motor (absence) seizure, Sei... |
OMIM:616281 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Cerebellar edema, Seizure precipitated by febrile infection, Bilatera... |
ORPHA:363558 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Cerebral atrophy, Choreoathetosis, Seizure, Colpocepha... |
OMIM:616034 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadoch... |
OMIM:614487 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Flexion contracture, Focal to... |
OMIM:617105 |
Cln5 Disease |
|
Generalized-onset seizure, Dysmetria, EEG with focal spikes, Hyperactivity, Ataxia, Atrophy/Degen... |
ORPHA:228360 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Multifocal seizures, Focal motor status epilepticus, Focal-onset seizure, EEG wi... |
OMIM:614498 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Short stature, Ataxia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619065 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Corticobasal Syndrome |
|
Limb myoclonus, Gait disturbance, Myoclonus, Akinesia |
ORPHA:454887 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Cerebral atrophy, Hypsarrhythmia, Astrocytosis, Gliosis, Myoclonus, Neuronal loss in cent... |
ORPHA:204 |
Pick Disease Of Brain |
|
Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Neuronal loss in central nervous syst... |
OMIM:172700 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Slender build, Generalized non-motor (absence) sei... |
OMIM:617600 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Camptodactyly of finger, Arthrogryposis multiplex congenita, Generalized non-motor (absence) seiz... |
OMIM:615553 |
Generalized Epilepsy With Febrile Seizures Plus, Type 10 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... |
OMIM:618482 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Inability to walk, EEG abnormality, Self-injurious behavior, Convulsive stat... |
OMIM:618760 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... |
ORPHA:240094 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, Over... |
OMIM:619229 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Bilateral tonic-c... |
OMIM:618067 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Seizure, EEG abnormal... |
ORPHA:529665 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Hypoplasia of the pons, Seizure, Congenital contracture, Gliosis, Cerebellar hypopl... |
OMIM:277470 |
Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Choreoathetosis, Hyperactivity, EEG with burst suppression, Hypsarrhyth... |
ORPHA:1934 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Seizure, Dysphagia, Neonatal death, Intrauterine growth retardation, Decreased body wei... |
OMIM:608013 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
Liang-Wang Syndrome |
|
Cerebellar atrophy, Ataxia, Generalized non-motor (absence) seizure, Cerebral atrophy, Status epi... |
OMIM:618729 |
Postencephalitic Parkinsonism |
|
Diminished movement, Seizure, Akinesia, Dysphagia |
ORPHA:97349 |
Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Hypokinesia, Gait ataxia |
OMIM:605407 |
Tubulinopathy-Associated Dysgyria |
|
Startle-induced seizure, Ataxia, Cerebellar vermis hypoplasia, Infantile spasms, Hypoplasia of th... |
ORPHA:467166 |
Lafora Disease |
|
Giant somatosensory evoked potentials, Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-cl... |
ORPHA:501 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... |
OMIM:617290 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Ataxia, Attention deficit hyperactivity disorder, Failure to thrive, Hypokinesia |
OMIM:620007 |
Congenital Myopathy 9A |
|
Short stature, Obesity, Akinesia |
OMIM:618822 |
Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Akinesia, Intrauterine growth retardation, ... |
ORPHA:994 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Foot joint contracture, Decreased nerve conduction velocity, Inab... |
ORPHA:457205 |
Intellectual Developmental Disorder, X-Linked 41 |
|
Generalized non-motor (absence) seizure |
OMIM:300849 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Obsessive-compulsive trait, Gait dis... |
ORPHA:544254 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppression, Hypsarrhy... |
OMIM:616973 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Short stature, Absent pubertal growth spurt, Ataxia, Bilateral tonic-clonic seizur... |
ORPHA:464282 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dy... |
ORPHA:93952 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure, Short stature, Dysmetria, Gait ataxia, Cerebral atrophy, Spastic ... |
OMIM:615031 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Akinesia, Weight loss, Agitation, Shuffling gait, Gliosis, Dysphagia, Cerebral corti... |
ORPHA:411602 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Flexion contract... |
OMIM:618856 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Generalized-onset seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seizure, ... |
OMIM:620166 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic... |
OMIM:300912 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Postnatal growth retardation, Typical absence seizure, Growth delay, Seizure, Attention deficit h... |
ORPHA:576283 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Short stature, Small for gestational age, Cerebral atrophy, Seizure, Lateral ventricle dilatation... |
OMIM:619847 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Impulsivity, D... |
OMIM:619028 |
Perry Syndrome |
|
Akinesia, Weight loss, Inappropriate behavior, Disinhibition, Short stepped shuffling gait |
OMIM:168605 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, EEG with burst suppression, Cerebral atrophy, Hy... |
OMIM:612164 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Sulfite Oxidase Deficiency, Isolated |
|
Ataxia, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Cerebral atrophy, Cho... |
OMIM:272300 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum, Hypokinesia |
OMIM:300073 |
Brain Small Vessel Disease 2 |
|
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure, Hypokinesia |
OMIM:249650 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Cln3 Disease |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seiz... |
ORPHA:228346 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Keloids, Seizure, Gliosis |
ORPHA:357225 |
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Generalized non-motor (absence) seizure |
ORPHA:370943 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Seizure, Ataxia, Gliosis |
OMIM:612936 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... |
ORPHA:77299 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Seizure, Status epilepticus, Neurodegeneration, Gliosis, Neuronal loss in cen... |
OMIM:616239 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG with burst suppression, Cerebral atrophy... |
OMIM:301058 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Unsteady gait, Cerebral atrophy, Gait... |
ORPHA:98762 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Dysphagia, Cerebellar cortical... |
ORPHA:247234 |
Manganese Poisoning |
|
Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... |
ORPHA:306682 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Ataxia, Dysmetria, Seizure, Dysdiadochokinesis, Neurodegeneration, Difficulty... |
OMIM:612319 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Inguinal hernia, Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awarene... |
OMIM:613970 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Global brain atrophy, Intrauterine growth retardation, Seizure, Hypokinesia |
OMIM:609060 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia |
OMIM:300857 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Elbow contracture, I... |
OMIM:617201 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... |
ORPHA:457351 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... |
ORPHA:250972 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Epileptic spasm, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic sei... |
OMIM:617193 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Arthrogryposis multiplex congenita, Akinesia |
OMIM:619334 |
Epilepsy, Childhood Absence, Susceptibility To, 5 |
|
Generalized non-motor (absence) seizure |
OMIM:612269 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Seizure, Unsteady gait, Gait disturbance, Gliosis |
OMIM:603896 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Impulsivity, Inability to walk, Seizure, Lateral ventricle dilatation, ... |
OMIM:617854 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Inability to walk, Ataxia, Generalized non-motor (absence) seizure |
OMIM:617183 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Severe Canavan Disease |
|
Inability to walk, Seizure, Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia |
ORPHA:314911 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Myoclonus, Febrile seizure ... |
OMIM:612736 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral ... |
OMIM:613839 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy,... |
ORPHA:79264 |
Dk1-Cdg |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Multifocal ... |
ORPHA:91131 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Ataxia, Bilateral tonic-clonic seizure |
OMIM:618425 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Interictal EEG abnormality, Restlessness, Inguinal hernia, Cerebellar atrophy, Bilateral tonic-cl... |
ORPHA:544503 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular gener... |
OMIM:607876 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Abnormal repetitive ... |
OMIM:615802 |
Angelman Syndrome |
|
Hyperactivity, Ataxia, Tongue thrusting, Obesity, Seizure, EEG abnormality, Myoclonus, Atypical a... |
ORPHA:72 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Hy... |
OMIM:618325 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, EEG with generalized poly... |
ORPHA:163681 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Tonic s... |
OMIM:619580 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:618354 |
Hyperprolinemia Type 2 |
|
Early onset absence seizures, Generalized-onset seizure, Aggressive behavior, Unsteady gait, Seiz... |
ORPHA:79101 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls |
OMIM:203740 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Growth delay, Seizure, Late... |
OMIM:615716 |
Parkinson Disease 1, Autosomal Dominant |
|
Gait disturbance, Shuffling gait, Myoclonus, Dysphagia, Loss of ambulation, Gliosis, Global brain... |
OMIM:168601 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,... |
ORPHA:438134 |
Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Senile plaques, Falls, Ga... |
OMIM:601104 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Bilateral tonic-clonic seizure, Obesity, Large for gestational age |
OMIM:240900 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
OMIM:614280 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Multifocal epileptiform discharges, EEG with g... |
ORPHA:488613 |
Congenital Myopathy 12 |
|
Small for gestational age, Akinesia, Jaw contracture, Camptodactyly, Joint contracture of the hand |
OMIM:612540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Bilateral tonic-clonic seizure, Ankle flexion contracture, Flexion contracture, ... |
OMIM:617468 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Cerebral ... |
OMIM:616672 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Hydrocephalus, Seizure, EEG abnorm... |
OMIM:245200 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of the spinal cord, Hydrocep... |
ORPHA:395 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Growth delay, Seizure, Gliosis, Ce... |
ORPHA:3240 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Generalize... |
OMIM:615398 |
Lissencephaly Due To Lis1 Mutation |
|
Cerebellar vermis hypoplasia, EEG with changes in voltage, Infantile spasms, Focal motor seizure,... |
ORPHA:95232 |
3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... |
OMIM:619835 |
Nicolaides-Baraitser Syndrome |
|
Epileptic spasm, Severe short stature, Generalized non-motor (absence) seizure, Seizure, Status e... |
ORPHA:3051 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... |
ORPHA:64280 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Seizure, Congenital contracture, Cerebellar hypoplasia, Hypokinesia |
OMIM:615042 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Short stature, Large for gestational age, Seizure, Self-injurious behavior, Glio... |
ORPHA:261652 |
Developmental And Epileptic Encephalopathy 79 |
|
Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, My... |
OMIM:618559 |
Developmental And Epileptic Encephalopathy 110 |
|
Bruxism, Continuous spike and waves during slow sleep, Generalized non-motor (absence) seizure, F... |
OMIM:620149 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Cerebral atrophy, Seizure, Focal clonic seizure,... |
OMIM:617933 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance |
ORPHA:240071 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Degeneration of the striatum, Dysdiadochokinesis, Gait disturbance, Hypokinesia |
OMIM:609161 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Ataxia, Tonic seizure, Inability to walk, Repetitive compulsive behavior, Generalized non-motor (... |
OMIM:300260 |
Leigh Syndrome |
|
Seizure, Failure to thrive, Ataxia, Gliosis |
OMIM:256000 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Hypsarrhythmia, Myoclonic sei... |
OMIM:619877 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence)... |
OMIM:614207 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Axonal degeneration, Gait disturbance, Gliosis |
OMIM:604484 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Short stature, Proportionate short stature, Generalized non-motor (absence) seizure, Growth delay... |
OMIM:612337 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Hypokinesia |
OMIM:618184 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Infantile spasms, Aggressive behavior, Cerebral atrophy, Gait ataxia, Hypsarrhythmia, Sei... |
OMIM:618321 |
Dpm1-Cdg |
|
Early onset absence seizures, Cerebellar atrophy, Abnormal dentate nucleus morphology, Ataxia, Ce... |
ORPHA:79322 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Progressive cerebellar ataxia, Disinhibition, G... |
ORPHA:275872 |
Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Granulovacuolar degeneration, Falls, Gait imbalance, Gliosis, Dysphagia, Neuronal loss ... |
OMIM:609454 |
Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Flexion contracture, Akinesia |
OMIM:253290 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Gait disturbance, Bilateral tonic-clonic seizure |
ORPHA:100988 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Epileptic spasm, Inguinal hernia, Femoral hernia, Generalized non-motor (absence) seizure, Obesit... |
ORPHA:96147 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Choreoathetosis, Myoclonus |
ORPHA:726 |
Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Akinesia |
OMIM:607598 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Failure to thrive, Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral atrophy |
OMIM:618235 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Diminished movement, Limb myoclonus, Dysphagia |
ORPHA:240103 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Myoclonic seizure, Focal impaired ... |
OMIM:619983 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Generalized-onset seizure, Aggressive behavior, Unsteady gait, Focal motor se... |
ORPHA:98761 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Short stature, Ataxia, Inability to walk, Dystonic gait, Gliosis, Cerebellar hypoplasia, Difficul... |
ORPHA:280210 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cerebral lipofuscin, S... |
OMIM:610539 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Inguinal hernia, Short stature, Bilateral tonic-clonic seizure, Generalized non-... |
ORPHA:79351 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Developmental And Epileptic Encephalopathy 28 |
|
Seizure, Status epilepticus, Hypokinesia, Cerebral atrophy |
OMIM:616211 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of the spinal co... |
ORPHA:329308 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Generalized non-motor (absence) seizure |
OMIM:618992 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Inguinal hernia, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure,... |
OMIM:618143 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Increased connective tissue, Focal-onset seizure, Inability to walk, Flexion contracture, General... |
ORPHA:258 |
Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Cerebral atrophy, Se... |
ORPHA:309246 |
Lissencephaly, X-Linked, 2 |
|
Seizure, Agenesis of corpus callosum, Gliosis |
OMIM:300215 |
D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Tongue thrusting, Hypsarrhythmia, Growth delay, Seizure, Focal cl... |
OMIM:220120 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agitation, Disinhib... |
OMIM:607485 |
Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myelin-dependent gliosis, Dysphagia |
OMIM:201550 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure |
ORPHA:53583 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Gait disturbance, Neurodegeneratio... |
OMIM:234200 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Hypsarrhythmi... |
OMIM:600721 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Agenesis of corpus callosum, Neonatal death, Hypokinesia |
OMIM:610498 |
Ritscher-Schinzel Syndrome 4 |
|
Short stature, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Impulsivity, Focal-on... |
OMIM:619435 |
Aceruloplasminemia |
|
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Abnormal dentate nucleus morphology |
ORPHA:48818 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Infantile... |
ORPHA:171680 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy |
OMIM:105550 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Hypokinesia, Increased connective tissue |
ORPHA:238329 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Lateral ventricle dilatation, Ataxia, Neurodegeneration |
OMIM:615889 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta frequency activity in... |
ORPHA:98784 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Inability to walk, Typical absence seizure, Dysmetria, Seizure, Gait disturba... |
ORPHA:845 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Limb joint contracture, Small for gestational age, Infantile spasms, Inabilit... |
ORPHA:404454 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Pseudobulbar paralysis, Gliosis |
OMIM:169500 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Atonic seizure, Generalized non-motor (absence) seizure |
OMIM:610293 |
Alg11-Cdg |
|
Ataxia, EEG with burst suppression, Cerebral atrophy, Seizure, Abnormal adipose tissue morphology... |
ORPHA:280071 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Aggressive behavior, Ps... |
ORPHA:199354 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal dentate nucleus morphology, Multiple joint contractures, Ataxia, Inf... |
ORPHA:506 |
Muscular Hypertonia, Lethal |
|
Umbilical hernia, Hypokinesia |
OMIM:254120 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxi... |
OMIM:615157 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
EEG abnormality, Generalized non-motor (absence) seizure |
OMIM:300801 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Truncal ataxia, Limb ataxia, Progressive ce... |
OMIM:109150 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... |
OMIM:617281 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior,... |
ORPHA:364028 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Intrauterin... |
ORPHA:363686 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk, Flexion contractu... |
ORPHA:481152 |
Sarcosinemia |
|
Ataxia, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Seizure, Gliosis |
OMIM:608033 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... |
OMIM:604377 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Neonatal death... |
OMIM:615501 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Short stature, Ataxia, Limb joint contracture, Flexion contracture, Seizure, ... |
OMIM:301072 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, ... |
ORPHA:268940 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Gait imbalance, Ankle flexion contracture, Bilateral tonic-clonic seizure |
OMIM:618120 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/adolescence, Gen... |
OMIM:620224 |
Arthrogryposis Multiplex Congenita 5 |
|
Inguinal hernia, Akinesia, Flexion contracture, Elbow flexion contracture, Growth delay, Umbilica... |
OMIM:618947 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges, Hypsarrhythm... |
OMIM:271900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Seizure, Short stature, Neurodegeneration |
OMIM:620210 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor tics, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity di... |
OMIM:619725 |
Progressive Supranuclear Palsy |
|
Impulsivity, Unsteady gait, Falls, Gliosis, Dysphagia, Neuronal loss in central nervous system, C... |
ORPHA:683 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal motor seizure, Dysmetria, Gait ataxia, ... |
OMIM:602481 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Tip-toe gait, Gait disturbance, Neurodegeneration, Compulsive behaviors, Motor tics |
OMIM:615643 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse... |
ORPHA:478029 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Dysmetria, Gait ataxia, Progressive cerebellar a... |
ORPHA:254881 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Knee flexion con... |
ORPHA:435638 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure with fo... |
OMIM:620024 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short stature, Pica, Generalized non-motor (absence) seizure, Seizure, Camptodactyly, Intrauterin... |
OMIM:617360 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Cerebral cortical atrophy, Akinesia |
OMIM:616840 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Ce... |
OMIM:203700 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Ataxia, Abnormal auditory evoked pot... |
ORPHA:909 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Frontotempora... |
ORPHA:391428 |
Hyperekplexia 1 |
|
Inguinal hernia, Hypokinesia, Seizure, Myoclonus, Umbilical hernia, Nocturnal seizures |
OMIM:149400 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Dandy-Walker malformation, Bilateral tonic-clonic seizure, Inability to walk, D... |
OMIM:617988 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Myoclonus, Hypokinesia, Gait ataxia |
ORPHA:101150 |
Intermediate Nemaline Myopathy |
|
Flexion contracture, Difficulty walking, Dysphagia, Arthrogryposis multiplex congenita, Hypokinesia |
ORPHA:171433 |
Developmental And Epileptic Encephalopathy 8 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure |
OMIM:300607 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Growth delay, Seizure... |
OMIM:252160 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Focal-onset seizure, Hydrocephalus, Chiari type I malformation, Seizure, Neurodegeneratio... |
OMIM:618476 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... |
ORPHA:488627 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Small for gestational age, Self-mutilation, Bilateral tonic-clonic seizure, Multifocal epileptifo... |
ORPHA:453510 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Unsteady gait, Generalized non-motor (absence) seizure, Growth de... |
OMIM:617798 |
Familial Acute Necrotizing Encephalopathy |
|
Seizure, Gait disturbance, Gliosis |
ORPHA:88619 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Lateral ventricle dilatation, Bilateral tonic-clonic seizure |
OMIM:619278 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Cerebral atrophy, Seizure... |
OMIM:610217 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizu... |
ORPHA:480864 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Short stature, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, S... |
OMIM:617799 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Dysphagia, Hypokinesia, Aggressive behavior |
OMIM:614707 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Seizure, Umbilical hernia, Mild short stature, Failure to thrive |
OMIM:169400 |
Weaver Syndrome |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure... |
OMIM:277590 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Corpus c... |
OMIM:261515 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Growth delay, Dysphagia, Arthrogrypos... |
ORPHA:496641 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Cerebellar vermis hypoplasia, Short stature, Bilateral tonic-clonic seizure, Myoclonic seizure, B... |
OMIM:620070 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Kinsship Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absenc... |
OMIM:619297 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Mult... |
ORPHA:369837 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,... |
OMIM:615919 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness, Febrile seizure (within the age range of 3 months to 6 years), Bilateral toni... |
ORPHA:42 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Inguinal hernia, Corpus callosum atrophy, Limb ataxia, Gait ataxia, Growth de... |
OMIM:248500 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Inguinal hernia, Ataxia, Short stature, Bilateral tonic-clonic seizure, Aggress... |
ORPHA:268261 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Broad-based gait, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Limb joint contracture, Inability to walk, Achilles tendon contracture, Sciss... |
OMIM:617013 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:616083 |
Warburg Micro Syndrome 3 |
|
Bilateral tonic-clonic seizure, Postnatal growth retardation, Inability to walk, Flexion contract... |
OMIM:614222 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure |
OMIM:540000 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Seizure, Gliosis, Dysphagia |
ORPHA:26791 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Bilateral tonic-clonic seizure, Small for gestational age, Postnatal growth retard... |
OMIM:257300 |
Sandhoff Disease, Infantile Form |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus, Cerebral cortical atrophy |
ORPHA:309155 |
Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Oral-pharyngeal dysphagia, Dysmetria, Myoclonic seizure, Athetosis, Seizure, Gliosi... |
OMIM:615273 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Large for gestational age, Flexion contracture, Elbow flexion contracture, Knee ... |
OMIM:300868 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
Glass Syndrome |
|
Restlessness, Broad-based gait, Inguinal hernia, Short stature, Bilateral tonic-clonic seizure, H... |
OMIM:612313 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
De Sanctis-Cacchione Syndrome |
|
Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Axonal degeneration, Scissor gait, ... |
OMIM:278800 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Athetosis, Seizure, Focal impaired awareness seizure, Polydipsia,... |
ORPHA:369929 |
German Syndrome |
|
Short stature, Camptodactyly of finger, Dysphagia, Arthrogryposis multiplex congenita, Hypokinesia |
ORPHA:2077 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Hypoplasia of the pons, Abnormal re... |
OMIM:619512 |
African Trypanosomiasis |
|
Akinesia, Aggressive behavior, Myelopathy, Weight loss, Choreoathetosis, Seizure, Gait disturbanc... |
ORPHA:3385 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Unsteady g... |
OMIM:618733 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Seizure, Falls, Gliosis, Difficulty walking |
OMIM:618222 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Myoclonus,... |
OMIM:618426 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Seizure, EEG abnormality, Gliosis, Neonatal death, ... |
OMIM:124000 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Focal-onset seizure, Bilateral tonic-clonic seizure, Chiari type I malformation |
OMIM:618316 |
1Q44 Microdeletion Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Hydrocephalus, Growth delay, Agenesis of corpus ca... |
ORPHA:238769 |
Holoprosencephaly 14 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Aqueductal stenosis... |
OMIM:619895 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,... |
ORPHA:2131 |
Adrenoleukodystrophy |
|
Limb ataxia, Seizure, Neurodegeneration, Attention deficit hyperactivity disorder, Truncal ataxia |
OMIM:300100 |
Hyperekplexia 3 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Short stature, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seiz... |
OMIM:615873 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Typical absence seizure, Atypical scarring of skin, Seizure, Atrophic scars, Cerebellar hypoplasi... |
OMIM:618343 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure, Infantile spasms, Hai... |
ORPHA:447997 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Obe... |
ORPHA:466943 |
Bone Marrow Failure Syndrome 5 |
|
Growth delay, Short stature, Bilateral tonic-clonic seizure |
OMIM:618165 |
Amish Lethal Microcephaly |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Spina ... |
ORPHA:99742 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Cerebellar atrophy, Severe short stature, Ataxia, Cachexia, ... |
ORPHA:191 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Flexion contracture, Dysmetria, Cerebral atrophy, Neurodegeneration, ... |
OMIM:615491 |
Nivelon-Nivelon-Mabille Syndrome |
|
Cerebellar vermis hypoplasia, Focal-onset seizure, Severe short stature, Bilateral tonic-clonic s... |
OMIM:600092 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Aggressive behavior, Seizure, Gl... |
OMIM:618846 |
Papillorenal Syndrome |
|
Chiari type I malformation, Seizure, Short stature, Gliosis |
OMIM:120330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hypokinesia |
OMIM:619063 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Cerebral atrophy, Growth delay, Seizure, Gliosis, Myoclonic spasms |
OMIM:252150 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Bilateral tonic-clonic seizure, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
Melas |
|
Ataxia, Short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, EEG abnormal... |
ORPHA:550 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Postnatal growth retardation, Short stature, Hypokinesia, Small for gestational age |
OMIM:613320 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Anorexia, EEG with bur... |
ORPHA:79139 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Aggr... |
OMIM:620330 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Ataxia, Bilateral tonic-clonic seizure, Growth delay, Seizure,... |
ORPHA:247262 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, Intrauterine growth retardation, Short stature, Bilateral tonic-clonic ... |
ORPHA:423479 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Ataxia, Short stature, Bilateral tonic-clonic seizure, Hiatus he... |
OMIM:614756 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... |
OMIM:620066 |
Cerebral Visual Impairment |
|
Hydrocephalus, Central nervous system degeneration, Seizure, Neurodegeneration, Attention deficit... |
ORPHA:447788 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Diminished movement, Tongue thrusting, Choreoathetosis, Athetosis, Myoclonus |
OMIM:608643 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Generalized-onset seizure, Ataxia, Small for gestational age, Cerebellar vermis ... |
OMIM:220111 |
Myopathy, Centronuclear, X-Linked |
|
Dandy-Walker malformation, Flexion contracture, Hydrocephalus, Hypokinesia |
OMIM:310400 |
Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Severe short stature, Short stature, Hydrocephalus, Flexion contracture, Seizure... |
OMIM:309900 |
Hermansky-Pudlak Syndrome 10 |
|
EEG abnormality, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Cerebral atrophy |
OMIM:617050 |
Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Seizure, Spastic gait |
OMIM:207800 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Inguinal hernia, Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Focal-onset seizure, ... |
ORPHA:459070 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Seizure, Gait disturbance, Dysphagia, Failure to thrive,... |
ORPHA:254892 |
Choreoacanthocytosis |
|
Caudate atrophy, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action ... |
ORPHA:2388 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Aggressive behavior |
OMIM:606688 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Oral-pharyngeal dysphagia, Cerebral atrophy, Gait ataxia, Seizure, Gait disturbance, Neur... |
OMIM:616878 |
Biotinidase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myelopathy, Focal motor seizure, Seizur... |
ORPHA:79241 |
Severe Congenital Nemaline Myopathy |
|
Increased connective tissue, Flexion contracture, Dysphagia, Arthrogryposis multiplex congenita, ... |
ORPHA:171430 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Neonatal death, Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
Gm2-Gangliosidosis, Ab Variant |
|
Seizure, Neurodegeneration, Cerebral atrophy, Myoclonic seizure |
OMIM:272750 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Postnatal growth retardation, Cerebral atrophy, Growth delay, Sei... |
OMIM:301040 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Bilateral tonic-clonic seizure, Weight loss, Lower-limb joint contracture, Generalized my... |
ORPHA:99885 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Seizure, Gliosis, Camptodactyly, Joint cont... |
OMIM:617403 |
Chromosome Xp11.3 Deletion Syndrome |
|
Short stature, Bilateral tonic-clonic seizure |
OMIM:300578 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Anorexia, Diminished movement, Inability to walk, Agita... |
ORPHA:2912 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,... |
OMIM:619475 |
Infantile Dystonia-Parkinsonism |
|
Hypokinesia |
ORPHA:238455 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Gait ataxia, Seizure, Dysphagia, Genera... |
ORPHA:255210 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Congenital diaphragmatic h... |
OMIM:301044 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology, Dysmetria, Gait ataxia, Seizure |
ORPHA:217260 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
ORPHA:3044 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Choreoathetosis, Neurodegeneration, Disinhibition, Dysphagia |
OMIM:606159 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Gliosis |
OMIM:231680 |
Typical Nemaline Myopathy |
|
Waddling gait, Flexion contracture, Gait disturbance, Arthrogryposis multiplex congenita, Hypokin... |
ORPHA:171436 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Ataxia, Impulsivity, Gait disturbance, Neurodegeneration, Loss of ambulation |
OMIM:614298 |
W Syndrome |
|
Bilateral tonic-clonic seizure, Camptodactyly |
ORPHA:2804 |
Sandhoff Disease |
|
Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:268800 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Bilateral tonic-clonic seizure, Large for gestational age, Gait atax... |
ORPHA:457359 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615474 |
Webb-Dattani Syndrome |
|
Short stature, Obesity, Bilateral tonic-clonic seizure |
OMIM:615926 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Failure to thrive in infancy, Proportionate short stature, Dysplastic ... |
ORPHA:500150 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Short stature, Bilateral tonic-clonic seizure with focal onset, Ataxia, Unsteady... |
OMIM:614947 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Amyotrophic lateral sclerosis, Agitation, Neurodegeneration |
ORPHA:803 |
Chediak-Higashi Syndrome |
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Ataxia, Decreased nerve conduction velocity, Seizure, Gait disturbance, Neurodegeneration |
OMIM:214500 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Broad-based gait, Inguinal hernia, Bilateral tonic-clonic seizure, Large for gestational age, Cer... |
OMIM:280000 |
Hallermann-Streiff Syndrome |
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Hyperactivity, Bilateral tonic-clonic seizure, Small for gestational age, Proportionate short sta... |
OMIM:234100 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Bilateral tonic-clonic seizure |
OMIM:201475 |
Gabriele-De Vries Syndrome |
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Waddling gait, Small for gestational age, Oral-pharyngeal dysphagia, Distal arthrogryposis, Glios... |
ORPHA:506358 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Growth delay, Failure to thrive |
OMIM:252010 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Growth delay, Bilateral tonic-clonic seizure |
ORPHA:436159 |
Oliver Syndrome |
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Bilateral tonic-clonic seizure, Camptodactyly of finger, Elbow flexion contracture, Knee flexion ... |
ORPHA:2920 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Short stature, Ataxia, Abnormal cerebellum morphology, Generalized non-motor (absence) seizure, A... |
ORPHA:77293 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Inability to walk, Typical absence seizure, Growth delay, Seizure, Bruxism, Agenesis of corpus ca... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Inability to walk, Typical absence seizure, Growth delay, Seizure, Bruxism, Agenesis of corpus ca... |
ORPHA:352665 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Failure to thrive, Generalized non-motor (absence) seizure |
ORPHA:293978 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Diffic... |
ORPHA:268810 |
Hartsfield Syndrome |
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Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Lobar holoprosencephaly, Growth delay, ... |
OMIM:615465 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Self-injurious ... |
OMIM:612474 |
Wilson Disease |
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Hypokinesia, Decreased nerve conduction velocity, Seizure, Dysphagia, Chondrocalcinosis |
OMIM:277900 |
Sotos Syndrome |
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Hip contracture, Inguinal hernia, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, A... |
ORPHA:821 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Intrauterine growth retardation, Seizure, Ataxia, Bilateral tonic-clonic seizure |
OMIM:610505 |
Mucopolysaccharidosis, Type Vii |
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Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Flexion contrac... |
OMIM:253220 |
X Small Rings |
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Growth delay, Seizure, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Short stature, Focal-onset seizure, Typical absence seizure, Obesity, Intrauterine growth retarda... |
OMIM:617157 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Bilateral tonic-clonic seizure, Failure to thrive in infancy |
ORPHA:79124 |
Pyruvate Dehydrogenase E2 Deficiency |
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Neurodegeneration, Broad-based gait, Gait disturbance, Difficulty walking |
ORPHA:79244 |
Lujo Hemorrhagic Fever |
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Seizure, Bilateral tonic-clonic seizure, Dysphagia |
ORPHA:319213 |
Gaucher Disease |
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Short stature, Bilateral tonic-clonic seizure, Ataxia, Hydrocephalus, Dysphagia, Delayed puberty,... |
ORPHA:355 |
Hurler Syndrome |
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Inguinal hernia, Short stature, Hydrocephalus, Flexion contracture, Neurodegeneration, Hernia, Um... |
OMIM:607014 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Ina... |
ORPHA:261537 |
Ogden Syndrome |
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Inguinal hernia, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postna... |
OMIM:300855 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Epileptic spasm, Severe short stature, Generalized non-motor (absence) seizure, Seizure, Status e... |
ORPHA:2636 |
Mowat-Wilson Syndrome |
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Cerebellar vermis hypoplasia, Flexion contracture, Abnormal repetitive mannerisms, Agenesis of co... |
ORPHA:2152 |
Cocaine Intoxication |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... |
ORPHA:90068 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Agenesis of cerebellar vermis, Short stature, Cerebellar vermis hypoplasia, Ina... |
ORPHA:261552 |
Multiple System Atrophy 1, Susceptibility To |
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Neurodegeneration, Ataxia, Olivopontocerebellar atrophy |
OMIM:146500 |
Carpenter Syndrome 2 |
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Obesity, Generalized non-motor (absence) seizure, Knee flexion contracture, Camptodactyly, Umbili... |
OMIM:614976 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Epileptic spasm, Short stature, Inability to walk, Seizure, Myoclonus, Dysphagi... |
ORPHA:438213 |
Nijmegen Breakage Syndrome |
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Hyperactivity, Short stature, Glioma, Neurodegeneration, Intrauterine growth retardation |
OMIM:251260 |
Rat-Bite Fever |
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Diminished movement, Weight loss |
ORPHA:31205 |
Doors Syndrome |
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Small cerebellar cortex, Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awarenes... |
ORPHA:79500 |
Primrose Syndrome |
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Hip contracture, Restlessness, Short stature, Ataxia, Aggressive behavior, Flexion contracture, K... |
OMIM:259050 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Danon Disease |
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Hypokinesia |
OMIM:300257 |
Kabuki Syndrome 1 |
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Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Hyd... |
OMIM:147920 |
Orofaciodigital Syndrome Type 2 |
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Short stature, Bilateral tonic-clonic seizure |
ORPHA:2751 |
Alström Syndrome |
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Dorsocervical fat pad, Short stature, Ataxia, Typical absence seizure, Obesity, Truncal obesity, ... |
ORPHA:64 |