Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, EEG abnormality, Abno... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, EEG abnormality, Abno... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Impaired ability to form pee... |
OMIM:608636 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity, Abnormal social behavior, EEG abnormality |
ORPHA:436151 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300425 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
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 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hy... |
OMIM:619970 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Focal motor status epilepticus, Focal-onset seizure, Seizure, EEG ab... |
OMIM:619150 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Seizure, Impaired social interactions, Aggressive behavior |
OMIM:618103 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Short stature |
OMIM:300271 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Landau-Kleffner Syndrome |
|
Gait ataxia, Steppage gait, Non-convulsive status epilepticus without coma, Hyperactivity, EEG wi... |
ORPHA:98818 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, EEG abnormality, Abno... |
OMIM:608049 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s... |
OMIM:617113 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Seizure, EEG abnormality, Impaired social interaction... |
OMIM:617820 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Hereditary Geniospasm |
|
EEG abnormality, Abnormal social behavior, Chin myoclonus |
ORPHA:53372 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, EEG abnormality, Status epilepticus, Abnorma... |
OMIM:239500 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, EEG abno... |
ORPHA:2382 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Seizure, EEG abnormality, Abnormal repetitive mannerisms, Inflexible adhere... |
OMIM:300495 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short stature |
DECIPHER:19 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Continuous spike and waves during slow sleep, Seizure, Attention defi... |
OMIM:301008 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Short stature |
DECIPHER:8 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Hypsarrhythmia, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:617830 |
Hartnup Disorder |
|
Hyperactivity, Short stature, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia,... |
OMIM:234500 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Generalized-onset seizure, Inability to walk, Irritability, Seizure |
OMIM:616657 |
Cdkl5-Deficiency Disorder |
|
Infantile spasms, Focal-onset seizure, Multifocal epileptiform discharges, Growth delay, Gait dis... |
ORPHA:505652 |
Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Seizure, Generalized myoclonic seizure, Abnormal ... |
OMIM:616341 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Seizure, EEG abnormality, Bruxism, Abn... |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
OMIM:309548 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Short stature, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mann... |
OMIM:614063 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Interictal epileptiform activity, Hyperactivity, Bilateral tonic-clonic se... |
ORPHA:1929 |
Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
ORPHA:100973 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Short stature |
OMIM:616311 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Foxg1 Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset s... |
ORPHA:561854 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Pick Disease Of Brain |
|
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... |
OMIM:172700 |
Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
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 Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurren... |
OMIM:617862 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Irritability, Seizure, Difficulty walking, ... |
OMIM:617393 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... |
ORPHA:1942 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Seizure, Impaired social interactions, Stereotypical hand wringing |
ORPHA:397933 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, EEG with generalize... |
ORPHA:168491 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... |
OMIM:617270 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Clonic seizure, Self-injurious behavior, Seizure, Intrauterine growth retardation, Abnormal repet... |
OMIM:615282 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Inability to walk, Myoclonic seizure, Self-injurious behavior, Seizure, EEG abno... |
OMIM:614254 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Seizure, Myoclonus |
OMIM:605899 |
Atypical Rett Syndrome |
|
Restrictive behavior, Generalized myoclonic seizure, Infantile spasms, Inability to walk, Tongue ... |
ORPHA:3095 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Focal-onset seizure, Self-injurious behavior, EEG abnormality, Convulsive stat... |
OMIM:618760 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Short stature, Focal EEG discharges with secondary generalizatio... |
ORPHA:3077 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Dysp... |
ORPHA:391417 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Myocl... |
OMIM:600795 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor... |
OMIM:271980 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Seizure, EEG abnormality, Inappropriate laughter, Polyph... |
ORPHA:411515 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Seizure, Abnormal repetitive mannerisms |
OMIM:619470 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Short stature, Birth length less than 3rd percentile, Seizure, Gait distur... |
OMIM:614104 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Microcephaly, Seizures, And Developmental Delay |
|
Seizure, Hyperactivity, Ataxia |
OMIM:613402 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavi... |
ORPHA:382 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Hyperactivity, Epileptic spasm, Ataxia, Bilateral tonic-clonic... |
OMIM:619913 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Increased theta frequency activity in... |
ORPHA:98784 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei... |
OMIM:618917 |
Cln5 Disease |
|
Hyperactivity, Generalized-onset seizure, Ataxia, EEG with spike-wave complexes, Aggressive behav... |
ORPHA:228360 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Mild postnatal growth retardation, Seizure, Abnormal temper tantrums, Abno... |
ORPHA:530983 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Short stature |
ORPHA:85288 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Atonic seizure, Oral-ph... |
ORPHA:208447 |
Childhood Disintegrative Disorder |
|
Seizure, Abnormal repetitive mannerisms, Impaired social interactions, Abnormal emotion |
ORPHA:168782 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Unsteady ga... |
ORPHA:485350 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Short stature, Shyness, Seizure, Difficulty walking, Abnormal repetitive mannerisms |
ORPHA:280763 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Short stature, Bruxism |
OMIM:300434 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Seizure, Compulsive behaviors |
OMIM:301107 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ... |
OMIM:618090 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Short stature, Abnormal repetitive mannerisms, Growth delay, Self-injuriou... |
ORPHA:228402 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Bilateral tonic-clonic seizure, Infantile spas... |
OMIM:619428 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
EEG with polyspike wave complexes, Seizure, Hyperactivity |
OMIM:617169 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Postn... |
OMIM:300912 |
Hyperlysinemia, Type I |
|
Seizure, Hyperactivity |
OMIM:238700 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic ... |
OMIM:619580 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors |
ORPHA:444002 |
Mannosidosis, Beta A, Lysosomal |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:248510 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal re... |
OMIM:618218 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Atonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Mul... |
ORPHA:411986 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, EEG ... |
ORPHA:163681 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious behavior, Irritability, S... |
ORPHA:449291 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Growth delay, Seizure, Intrauterine growth retardation, Abnormal repetitive manner... |
OMIM:618347 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Seizure, Attention deficit hyperact... |
OMIM:261600 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Short stature, Inability to walk, Limb ataxia, Self-injurious behavior,... |
OMIM:617695 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... |
ORPHA:248111 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
Xq25 Microduplication Syndrome |
|
Seizure, Hyperactivity, Short stature |
ORPHA:521258 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Seizure, Hyperactivity |
OMIM:300928 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature, Aggressive behavior |
OMIM:615541 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Seizure, EEG abn... |
ORPHA:500180 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Dysphoria, Depression, Seizure,... |
OMIM:620242 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Emotional lability, Disinhibition, Dysphagia |
OMIM:612069 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... |
OMIM:615516 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Polyphagia, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Seizure, EEG abnormality, I... |
ORPHA:411511 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Growth delay, Seizure |
OMIM:612716 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, EEG with abnormally slow frequ... |
ORPHA:98794 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure |
OMIM:619690 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617600 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Infantile spasms, Tonic seizure, EEG with burst suppression, Hypsarrhythmia, Seizure |
OMIM:619239 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Seizure, Hyperactivity, Ataxia, Myoclonus |
OMIM:615924 |
Christianson Syndrome |
|
Generalized-onset seizure, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnorm... |
ORPHA:85278 |
Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Bruxism, Seizure, Agitation, Focal impaired awareness seizure, Dysphagia, Abnormal... |
OMIM:617435 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Hypsarrhyt... |
OMIM:619877 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity diso... |
OMIM:301029 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha... |
OMIM:619467 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
Smith-Magenis Syndrome |
|
Hyperactivity, Short stature, Self hugging, Head-banging, Seizure, EEG abnormality, Onychotilloma... |
OMIM:182290 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Depression, Seizure, Myoclonic spasms... |
ORPHA:79264 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Short stature, Repetitive compulsive behavior, Seizure, Compulsive behaviors, Atte... |
ORPHA:352490 |
Chromosome Xq25 Duplication Syndrome |
|
Seizure, Hyperactivity, Short stature |
OMIM:300979 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Seizure, Agitation, Disinhibition, Myoclonus, Abnormal social behavior |
ORPHA:1020 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Short stature, Bilateral tonic-clonic seizure, Aggressive behavior, ... |
OMIM:300558 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Seizure, EEG abnormality, Abnormal repet... |
OMIM:610883 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Seizure, Dysphagia, Abnormal repetitive mannerisms |
DECIPHER:45 |
Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Postnatal growth retardation, Abnormal fear-induced behavior, Seizure, Inappropria... |
ORPHA:309246 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:620141 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Generalized myoclonic seizure, Atonic seizure, Aggressiv... |
ORPHA:72 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Focal-onset seizure, Myoclonic sei... |
OMIM:619092 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Depression, Seizure, Gait disturbance, Abnormal re... |
ORPHA:457240 |
Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Irritability, Athetosis, Seizure, EEG abnormality, Impaired social interactions... |
OMIM:613454 |
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 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... |
OMIM:617044 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Self-injurious behavior, Seizure, Skin-picking... |
OMIM:600430 |
Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Hypsarrhythm... |
OMIM:300672 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Seizure, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Short stature, Gait apraxia, EEG with focal sharp waves, Dysmetria, Atheto... |
OMIM:617302 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Growth delay, Seizure, Inappr... |
OMIM:103050 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention deficit hyperact... |
OMIM:619725 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obsessive-compulsive trai... |
OMIM:618825 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, Interictal epileptiform acti... |
OMIM:617802 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Irritability, Abnormal repetitive mannerisms |
ORPHA:391307 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short stature, Aggressive behavior, Attention deficit hyperactivity disorder, Brux... |
OMIM:618342 |
Alazami Syndrome |
|
Abnormal eating behavior, Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms, ... |
ORPHA:319671 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, EEG with generalized slow activity |
ORPHA:397612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Ataxia, Tonic seizure, Repetitive compulsive behavior, Inability to walk, Bruxism, Generalized no... |
OMIM:300260 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Growth delay, Seizure, Abnormal repetitive manne... |
ORPHA:3306 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Ataxia, Generalized clonic seizure, Inability to walk, Focal myocloni... |
OMIM:619229 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Short stature, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injur... |
OMIM:620023 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... |
ORPHA:33543 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Short stature, Aggressive behavior, Seizure, Gait disturbance, Impaired social ... |
OMIM:300352 |
Coffin-Siris Syndrome 6 |
|
Short stature, Seizure, Tics, Attention deficit hyperactivity disorder, Abnormal repetitive manne... |
OMIM:617808 |
Rett Syndrome |
|
Inability to walk, Seizure, EEG abnormality, Gait disturbance, Agitation, Difficulty walking, Abn... |
ORPHA:778 |
Pilarowski-Bjornsson Syndrome |
|
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Generalized non-motor (absence) seizure, Tics, Inappropriate laughter, Low frustra... |
ORPHA:363686 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... |
ORPHA:313892 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Seizure, Gait disturbance, A... |
OMIM:300986 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Short stature, Seizure, Attention deficit hyperactivity disorder, Impaired social interac... |
OMIM:615656 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:85277 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Seizure, Progressive gait ataxia, EEG abnormality, Parox... |
OMIM:105830 |
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 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Gait ataxia, Seizure, Progressive gait ataxia, Tip-toe gait,... |
ORPHA:309256 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Seizure, Gait disturbance, Choking episodes, E... |
ORPHA:35069 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Seizure, Abnormal repetitive mannerisms |
OMIM:613443 |
4Q21 Microdeletion Syndrome |
|
Growth delay, Self-injurious behavior, Seizure, Intrauterine growth retardation, Abnormal repetit... |
ORPHA:238750 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Seizure, Agitation, Emotional lability, Abnormal repetitive mannerisms |
ORPHA:927 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Growth delay, Difficulty walking, Abnormal repetitive manneri... |
OMIM:123450 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitive ma... |
OMIM:618430 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Self-injurious behavior, Seizure, Status epilepticus, Bruxism, Abnormal repeti... |
OMIM:618004 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Seizure, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive... |
OMIM:619293 |
5Q14.3 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:228384 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Intrauterine growth retardation, Hyperactivity, Seizure, Abnormal repetitive mannerisms |
OMIM:617751 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Abnormal repetitive mannerisms, S... |
OMIM:300486 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Attention deficit hyperacti... |
OMIM:618205 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Seizure, Impaired social interactions, Attention deficit hyperactivit... |
ORPHA:8 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... |
ORPHA:1934 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Short stature, Impulsivity, Aggressive behavior, Bilateral tonic-clonic seizure, Focal-on... |
OMIM:619435 |
48,Xxyy Syndrome |
|
Ataxia, Depression, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive manner... |
ORPHA:10 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Pica, Irritability, Seizure, Obsessive-compulsive trait, Abnormal repetitive manne... |
OMIM:617796 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Hypsarrhythmia, Ir... |
ORPHA:447997 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Growth delay, Attention deficit hyperactivity disor... |
OMIM:619121 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Generalized-onset seizure, Gait ataxia, Difficulty walking, Abnormal repetitive... |
OMIM:617807 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Seizure, Impaired social interactions, Attention deficit hyperactivity disorder,... |
ORPHA:261197 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Inappropr... |
OMIM:615802 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Short stature, Aggressive behavior, Hypoglycemic seizures, Self-inj... |
OMIM:616364 |
Smith-Magenis Syndrome |
|
Short stature, Self-injurious behavior, Seizure, EEG abnormality, Gait disturbance, Attention def... |
ORPHA:819 |
22Q11.2 Duplication Syndrome |
|
Growth delay, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal r... |
ORPHA:1727 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Postnatal growth retardation, Inability to walk, Focal-onset seizure, Delayed ear... |
ORPHA:300570 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Seizure, Progressive gait ataxia, Emotional lability, Abnorm... |
ORPHA:309263 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Myoclonic seizure, Abnormal repetitive mannerisms, Infantile spasms, Dysphagia |
ORPHA:572013 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Seizure, Low frustration tolerance, Compulsive behaviors, Imp... |
OMIM:309520 |
Insulin-Like Growth Factor I Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Hyperactivity, Short stature |
OMIM:608747 |
Argininemia |
|
Hyperactivity, Anorexia, Postnatal growth retardation, Irritability, Seizure, Spastic gait |
OMIM:207800 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Short stature, Severe temper tantrums, Compulsive behaviors, Abnormal repetitive m... |
OMIM:618027 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Short stature, Athetosis, Seizure, Self-mutilation |
ORPHA:52503 |
Megalocornea-Intellectual Disability Syndrome |
|
Short stature, Ataxia, Seizure, EEG abnormality, Abnormal repetitive mannerisms |
ORPHA:2479 |
White-Sutton Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Self-injurious behavior, Seizure, EEG abnormal... |
ORPHA:468678 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Intrauterine gro... |
OMIM:619695 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Depression, Seizure, Progressive gait ataxia, Difficulty wal... |
ORPHA:309271 |
48,Xxxy Syndrome |
|
Irritability, Seizure, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... |
ORPHA:96263 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Dysphagia, Attention... |
OMIM:617061 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Focal motor seizure, Multifocal epileptiform discharges, Irritability, Seizure... |
ORPHA:1675 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Seizure, Gait imbalance, Attention deficit hyperactivit... |
OMIM:619312 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Tongue thrusting, Unsteady gait, Seizure, Impaired social ... |
OMIM:606232 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, ... |
OMIM:617281 |
Van Esch-O'Driscoll Syndrome |
|
Short stature, Impulsivity, Shyness, Growth delay, Seizure, Attention deficit hyperactivity disor... |
OMIM:301030 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... |
ORPHA:805 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,... |
OMIM:619475 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... |
OMIM:619103 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth retardation, Seiz... |
ORPHA:319182 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Aggressive behavior, Postnatal growth retardation, Unsteady gait, Seizure, Abnorma... |
OMIM:212066 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... |
OMIM:616393 |
Mend Syndrome |
|
Hyperactivity, Short stature, Abnormal auditory evoked potentials, Aggressive behavior, Seizure, ... |
ORPHA:401973 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Seizure, Abnormal repetitive mannerisms |
ORPHA:261144 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... |
OMIM:620073 |
Prader-Willi Syndrome Due To Translocation |
|
Short stature, Head-banging, Seizure, Abnormal temper tantrums, Skin-picking, Compulsive behavior... |
ORPHA:177907 |
Fg Syndrome Type 1 |
|
Broad-based gait, Short stature, Seizure, Attention deficit hyperactivity disorder, Compulsive be... |
ORPHA:93932 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Dysphagia, Emoti... |
OMIM:610217 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Seizure, EEG abnormality, Attention deficit hyperactivity disorder, Intrauterine growth retardati... |
OMIM:619005 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:500159 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Seizure, Low frustration tolerance, Abnormal temper t... |
ORPHA:457279 |
Cystinosis |
|
Short stature, Gait disturbance, Delayed puberty, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, EEG with focal sharp waves, Self-biting, Choreoathetosis,... |
ORPHA:522077 |
Transketolase Deficiency |
|
Proportionate short stature, Self-injurious behavior, Attention deficit hyperactivity disorder, C... |
ORPHA:488618 |
2Q37 Microdeletion Syndrome |
|
Short stature, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal ... |
ORPHA:1001 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Gait ataxia, Seizure, Attention deficit hyperactivity disorder, Compulsive b... |
ORPHA:476126 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Short stature, Aggressive behavior, Unsteady gait, Polyphagia, Dysm... |
ORPHA:96121 |
Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Hypersexuality, Focal-onset seizure, EEG with temporal sharp slow wave... |
ORPHA:217253 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Ataxia, Aggressive behavior, Focal-onset seizure, Depression, Seizure,... |
ORPHA:646 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Seizure, Ataxia |
OMIM:620047 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Bilateral tonic-c... |
ORPHA:2388 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Growth delay, Dysphagia, Febrile seizure (within the age ... |
ORPHA:496641 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, G... |
ORPHA:353281 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal... |
ORPHA:314647 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Head-banging, Self-injurious behavior, Seizure, Attention deficit hyperactivity di... |
OMIM:619575 |
Kleefstra Syndrome 1 |
|
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Short stature, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seiz... |
OMIM:615873 |
Bainbridge-Ropers Syndrome |
|
Inability to walk, Growth delay, Self-injurious behavior, Seizure, Intrauterine growth retardatio... |
OMIM:615485 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Generalized-onset seizure, Postnatal growth retardation, Focal hemiclonic seizure, Focal-onset se... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Generalized-onset seizure, Postnatal growth retardation, Focal hemiclonic seizure, Focal-onset se... |
ORPHA:363958 |
Kleefstra Syndrome |
|
Short stature, Aggressive behavior, Self-injurious behavior, Seizure, Abnormal repetitive manneri... |
ORPHA:261494 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Multifocal seizures, Aggressive behavior, EEG with central focal ... |
OMIM:301066 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Hypsa... |
OMIM:301044 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Postnatal growth retardation, Growth delay, Seizure, Abnormal rep... |
OMIM:301040 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Ataxia, Short stature, Bilateral tonic-clonic seizure, Aggressiv... |
OMIM:614756 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
Niemann-Pick Disease, Type C2 |
|
Seizure, Abnormal repetitive mannerisms, Ataxia, Dysphagia |
OMIM:607625 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Decreased nerve conduction veloci... |
ORPHA:580 |
Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Short stature, Focal-onset seizure, Generalized non-motor (absenc... |
OMIM:619297 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... |
OMIM:619512 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling,... |
OMIM:620330 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Simple febrile seizure, Birth length less than 3rd percentile, Seizure, Gait disturbance, Attenti... |
ORPHA:464311 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... |
ORPHA:353277 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad-based gait, Ataxia, Short stature, Truncal ataxia, Dysmetria, Gait ataxia, Seizure, Dysphag... |
OMIM:617330 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Short stature, Seizure, Gait disturbance, Intrauterine growth retardation, Febrile... |
ORPHA:464306 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Inability to walk, Disproportionate short stature, Seizure, Abnormal r... |
ORPHA:508533 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Depression, Self-injurious behavior, Seizure, EEG abnormality, Compulsive behavior... |
ORPHA:534 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Self-injurious behavior, Seizure, Intrauterine growth retardation, Abnormal... |
ORPHA:468631 |
Norrie Disease |
|
Self-injurious behavior, Irritability, Seizure, EEG abnormality, Attention deficit hyperactivity ... |
ORPHA:649 |
Ogden Syndrome |
|
Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Postnatal growth retard... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Short stature |
OMIM:309590 |
1P36 Deletion Syndrome |
|
Short stature, Polyphagia, Self-injurious behavior, Seizure, EEG abnormality, Gait disturbance, D... |
ORPHA:1606 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Growth delay, Severe postnatal growth retardation, Seizure, EEG abnormality, Intra... |
OMIM:194190 |
Arboleda-Tham Syndrome |
|
Growth delay, Seizure, Gait imbalance, Dysphagia, Intrauterine growth retardation, Abnormal repet... |
OMIM:616268 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Seizure, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Aggressive behavior, Postnatal growth retardation, Seizure, Abnormal repetitive ma... |
OMIM:309000 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms, Short stature |
ORPHA:508498 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Short stature, Inability to walk, Focal-onset seizure, Bruxism, Growth ... |
ORPHA:2152 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short stature, Growth delay, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Intrau... |
OMIM:619522 |
Primrose Syndrome |
|
Restlessness, Ataxia, Short stature, Aggressive behavior, Self-injurious behavior, Seizure, Tics,... |
OMIM:259050 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Self-injurious behavior,... |
OMIM:612474 |
Williams Syndrome |
|
Ataxia, Short stature, Dysmetria, Depression, Gait disturbance, Gait imbalance, Compulsive behavi... |
ORPHA:904 |
Coffin-Siris Syndrome 12 |
|
Seizure, Abnormal repetitive mannerisms, Short stature |
OMIM:619325 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Short stature, Inability to walk, Focal-onset seizure, Bruxism, Seizure, EEG ab... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Short stature, Inability to walk, Focal-onset seizure, Bruxism, Seizure, EEG ab... |
ORPHA:261552 |