| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Bruxism |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Bruxism |
ORPHA:356996 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Seizure, Self-injurious behavior, Delayed speech and language development, Clonic ... |
OMIM:619970 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivi... |
ORPHA:468726 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Absent speech, Anxiety, Inf... |
OMIM:619031 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Seizure, Absent speech |
OMIM:607417 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Delayed speech and language development, Hyperactivity, Abnormal social behavior, Seizure |
ORPHA:436151 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Echolalia, Attention deficit hyperactivity disorder, Phonic tics, Motor tics... |
OMIM:137580 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hartnup Disorder |
|
Hyperactivity, Generalized tonic seizure, Seizure, Delayed speech and language development, Emoti... |
OMIM:234500 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Generalized-onset seizure, Seizure, Absent speech, Irritability |
OMIM:616657 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Aggressive behavior, Emotional blunting, Echolalia, Apathy, Abnormal repe... |
ORPHA:275864 |
| Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Anxiety, Myoclonus, Spinal myoclonus, Compulsive behaviors, Depression, Panic att... |
ORPHA:36899 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... |
ORPHA:100973 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Focal impaired awareness seizure, Speech articulation difficulties, S... |
ORPHA:98818 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Seizure |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... |
OMIM:309548 |
| Obsessive-Compulsive Disorder |
|
Collectionism, Skin-picking, Depression, Anxiety |
OMIM:164230 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Depression, Anxiety, Agoraphobia, Alcoholism, Panic attack |
OMIM:159900 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Generalized tonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonus, Ge... |
ORPHA:2382 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Developmental And Epileptic Encephalopathy 9 |
|
Aggressive behavior, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Foca... |
OMIM:300088 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Seizure, Suicidal ideation, Pseudobu... |
ORPHA:208441 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Delayed speech and language development, Bipolar affective disorder, Abse... |
OMIM:619927 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Stereotypical hand wringing, Absent speech, Bila... |
OMIM:616056 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Delayed sp... |
OMIM:301008 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Seizure, Impaired social interactions, Stereotypical hand wringing, Inap... |
ORPHA:397933 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Status epil... |
OMIM:239500 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Attention defic... |
OMIM:617113 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
ORPHA:1945 |
| Glycine Encephalopathy |
|
Hyperactivity, Aggressive behavior, Seizure, Myoclonus, Impulsivity, Irritability, Restlessness |
OMIM:605899 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Aggressive behavior, Seizure, Focal-onset seizure, Delayed speech and language development, Focal... |
OMIM:619150 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Depression, ... |
OMIM:619191 |
| Childhood Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... |
ORPHA:64280 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Tics, Emotional lability, Impulsiv... |
ORPHA:66624 |
| Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Seizure, Impaired social interactions, Absent speech, Abnormal ... |
ORPHA:168782 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Aggressive behavior... |
OMIM:615516 |
| Foxg1 Syndrome |
|
Paroxysmal bursts of laughter, Impaired social interactions, Focal-onset seizure, Inappropriate c... |
ORPHA:561854 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Delayed speech and language... |
OMIM:271980 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Seizure, Anxiety, Speech articulation difficulties |
ORPHA:521258 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizu... |
ORPHA:382 |
| Hyperlysinemia, Type I |
|
Delayed speech and language development, Hyperactivity, Seizure |
OMIM:238700 |
| Bilateral Generalized Polymicrogyria |
|
Focal emotional seizure with laughing, Generalized-onset seizure, Generalized tonic seizure, Typi... |
ORPHA:208447 |
| Early-Onset Schizophrenia |
|
Restlessness, Diminished motivation, Abnormal emotion/affect behavior, Shyness, Suicidal ideation... |
ORPHA:96369 |
| Cdkl5-Deficiency Disorder |
|
Generalized tonic seizure, Stereotypical hand wringing, Focal-onset seizure, Inappropriate laught... |
ORPHA:505652 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Seizure, Delayed speech an... |
OMIM:618718 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Seizure, Shyness, Impaired social interactions, Self-injuriou... |
ORPHA:449291 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Cortical myoclonus, Hyperactivity, Aggressive behavior, Typical absence seizur... |
ORPHA:168491 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Absent speech |
OMIM:300983 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Hyperactivity, Delayed speech and language development, Myoclonus, Recurrent h... |
OMIM:617600 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Convulsive status epilepticus, Self-injurious behavior, Stereotypical hand w... |
OMIM:618760 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Delayed speech and language development, Hyperactivity, Aggressive behavior, Seizure |
OMIM:619470 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Delayed speech and language development, Hyperactivity, Seizure, Absent speech |
ORPHA:85288 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Bruxism, Hyperactivity, Seizure, Absent speech |
OMIM:300434 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, Delayed speech and langua... |
OMIM:604317 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Myoclonus, Focal tonic seiz... |
ORPHA:485350 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pronoun reversal, Pica, Echolalia, Seizure, Delayed speech and language development, Recurrent ha... |
OMIM:615032 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Suicidal ideation, Focal hyperkinetic seizure, Abnormal repetitive mannerisms, Bilateral tonic-cl... |
ORPHA:98784 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Seizure |
OMIM:248510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Delayed speech and language development, Bilateral tonic-clonic seizure, Hyperactivity |
OMIM:301076 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure, Recurrent hand flapping, Absent speech, Dysphagia |
OMIM:617862 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Myoclonic seizure, Seizure, Self-injurious behavior, Stereotypical hand wringing, Myoclonus, Abse... |
OMIM:614254 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, S... |
OMIM:619827 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Hyperactivity, Aggres... |
OMIM:610042 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Seizure, Stereotypical hand wringing, Myoclonus, Absent speech, Tonic seizure,... |
OMIM:618497 |
| Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Hyperactivity, Typical absence seizure, Delayed speech and language developmen... |
OMIM:620145 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Increased level of hippuric acid in urine, Attention deficit ... |
OMIM:261600 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Delayed speech and language... |
OMIM:618362 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Delayed speech and language... |
OMIM:619467 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Self-injurious behavior, Stereotyp... |
OMIM:618917 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Delayed speech and language development, Generalized myoclonic seizure, Absent spe... |
OMIM:618090 |
| Rasmussen Subacute Encephalitis |
|
Bilateral tonic-clonic seizure with focal onset, Epilepsia partialis continua, Generalized tonic ... |
ORPHA:1929 |
| Chromosome Xq25 Duplication Syndrome |
|
Delayed speech and language development, Hyperactivity, Seizure, Anxiety |
OMIM:300979 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Agitation, ... |
OMIM:300558 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Delayed speech and language development, Recurrent hand flapping, Inappropriate laughter, Seizure |
OMIM:618859 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Seizure, Self-injurious behavior, Delayed speech and language development, A... |
ORPHA:313892 |
| 2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Hyperactivity, Seizure, Self-injurious behavior, Delayed speech an... |
ORPHA:228402 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized myoclonic seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic seizure, ... |
OMIM:618141 |
| Atypical Rett Syndrome |
|
Limb myoclonus, Seizure, Impaired social interactions, Stereotypical hand wringing, Inappropriate... |
ORPHA:3095 |
| Gand Syndrome |
|
Language impairment, Hyperactivity, Inappropriate laughter, Tics |
OMIM:615074 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Micropenis |
ORPHA:75858 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Seizure, Delayed speech and language development, Absent speech, Attention deficit... |
OMIM:617182 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor... |
ORPHA:3077 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Delayed speech and language development, Abnormal repetitive mannerisms, Bilateral tonic... |
ORPHA:457240 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:609425 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Myoclonic seizure, Paroxysmal bursts of laughter, Aggressive behavior, Echolalia, Delayed speech ... |
OMIM:619580 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Seizure, Delayed speech and language development, Repetitive compulsive behavior, ... |
ORPHA:352490 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Echolalia, Recurrent hand flapping, Attention deficit hyperactivity disorder, Seizure |
OMIM:620021 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Delayed speech and language development, Myoclonus, Seizure, Hyperactivity |
OMIM:615924 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Echolalia, Seizure, Self-biting, Severe receptive language de... |
ORPHA:3306 |
| Christianson Syndrome |
|
Generalized-onset seizure, Absent speech, Abnormal repetitive mannerisms, Inappropriate laughter,... |
ORPHA:85278 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Seizure, Happy demeanor, Absent speech, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Ataxia, Depression, Progressive cerebellar ataxia, Irritability, Broa... |
ORPHA:248111 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Abnormal emotion/affect behavior, Impaired social interactions, Focal-onset seizur... |
ORPHA:1942 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Delayed speec... |
OMIM:617788 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Seizure, Anxiety, Myoclonic spasms, Emotional lability, Abnormal repetitive mannerisms, Bilateral... |
ORPHA:79264 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Delayed speech and language development, Myoclonus, Motor tics, Bilateral tonic-clonic seizure, A... |
OMIM:619725 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Seizure, Delayed speech and language development, Abnormal repetitive ma... |
ORPHA:397612 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Delayed speech and language development, Hyperactivity, Seizure |
OMIM:617169 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Seizure, Delayed speech and language development, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Seizure |
OMIM:300928 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Generalized-onset seizure, Inappropriate crying, Generalized myoclonic seizure, Focal hyperkineti... |
ORPHA:77299 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized tonic seizure, Myoclonus, Abnormal repetitive mannerisms, Atonic seizure, Focal impai... |
ORPHA:411986 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Seizure, Inappropriate crying, Recurrent hand flapping, Agitation, Absent speech, Bruxism |
OMIM:617903 |
| Cln5 Disease |
|
Generalized-onset seizure, Hyperactivity, Aggressive behavior, Seizure, Focal-onset seizure, Anxi... |
ORPHA:228360 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Impaired social interactions, Delayed speech and language development,... |
ORPHA:544254 |
| Alazami Syndrome |
|
Seizure, Stereotypical hand wringing, Abnormal repetitive mannerisms, Anxiety, Abnormal eating be... |
ORPHA:319671 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Echolalia, Seizure, Emotional lability, Agitation, Abnormal repetitive mannerisms, Anxiety |
ORPHA:927 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Irritability |
ORPHA:251383 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Stereotypi... |
OMIM:614104 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure with focal onset, Hyperactivity, Aggressive behavior, Seizure, Ste... |
ORPHA:163681 |
| Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Irritability |
OMIM:300831 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Choreoathetosis, ... |
OMIM:620023 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Hyperactivity, Eyelid myoclonus, Absent speech, Tonic seizure, Bilateral tonic... |
OMIM:619913 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Seizure, Delayed speech and language development, Abnormal social behavior, Abnorm... |
ORPHA:530983 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Seizure, Absent speech |
ORPHA:85277 |
| Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Seizure, Self-biting |
OMIM:300624 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Abnormal repetitive ... |
ORPHA:391307 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:612716 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Aggressive behavior, Seizure, Absent speech, Impulsivity, Dysphagia |
ORPHA:500180 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms, Seizure, Shyness |
ORPHA:280763 |
| 22Q11.2 Duplication Syndrome |
|
Seizure, Delayed speech and language development, Abnormal repetitive mannerisms, Compulsive beha... |
ORPHA:1727 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Impaired social interactions, Self-biting, Delayed speech and... |
OMIM:300912 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Anxiety |
OMIM:617752 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Seizure, Anxiety, Delayed speech and language development, Repetitive compulsive behavior, Attent... |
ORPHA:391372 |
| Lopes-Maciel-Rodan Syndrome |
|
Seizure, Agitation, Absent speech, Focal impaired awareness seizure, Dysphagia, Bruxism |
OMIM:617435 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Delayed speech and language development, Hyperactivity, Aggressive behavior |
OMIM:615541 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Myoclonic spasms, Delayed speech and language development, Abnormal ... |
ORPHA:447997 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Renal potassium ... |
OMIM:618314 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior, Seizure |
OMIM:615286 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure |
ORPHA:457260 |
| 5Q14.3 Microdeletion Syndrome |
|
Delayed speech and language development, Seizure, Abnormal repetitive mannerisms |
ORPHA:228384 |
| Chromosome Xq13 Duplication Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Aggressive behavior... |
OMIM:301069 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Seizure, Myoclonus, Recurrent hand flapping, Happy demeanor, Absent speech, Inappr... |
ORPHA:98794 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hostility, Seizure, Anxiety, Bruxism, Repetitive compulsive behavior, Status epilepticus, Absent ... |
OMIM:300260 |
| Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Anxiety, Delayed speech and... |
ORPHA:72 |
| 4Q21 Microdeletion Syndrome |
|
Delayed speech and language development, Self-injurious behavior, Seizure, Abnormal repetitive ma... |
ORPHA:238750 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Aggressive behavior, Impulsivity, Attention deficit hyperactivity disorder, Hydron... |
OMIM:620141 |
| 48,Xxyy Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression, An... |
ORPHA:10 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Seizure, Self-injurious behavior, Severe receptive language delay, Generalized myoclonic seizure,... |
ORPHA:457351 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Seizure, Delayed speech and language development, Tonic seizure, Infantile spasms |
OMIM:619239 |
| Angelman Syndrome Due To A Point Mutation |
|
Seizure, Recurrent hand flapping, Happy demeanor, Inappropriate laughter, Tongue thrusting, Abnor... |
ORPHA:411511 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
| Distal Xq28 Microduplication Syndrome |
|
Aggressive behavior, Self-biting, Delayed speech and language development, Impulsivity, Attention... |
ORPHA:293939 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Generalized tonic seizure, Hair-pulling, Aggressive behavior, Self-injurious behavior, Absent spe... |
OMIM:616393 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Myoclonus, ... |
OMIM:103050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Seizure, Self-injurious behavior, Anxiety, Recurrent hand flapping, Absent s... |
OMIM:300986 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Myoclonic seizure, Infantile spasms, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
| Transketolase Deficiency |
|
Self-injurious behavior, Delayed speech and language development, Absent speech, Compulsive behav... |
ORPHA:488618 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Pica, Tics, Happy demeanor, Absent speech, Tongue thrusting, Stereotypical body ro... |
OMIM:617865 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Urinary bladder sphincter dysfunction, Neurogenic bladder, Ga... |
ORPHA:43 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Aggressive behavior, Seizure, Delayed speech and language development, Absent spee... |
OMIM:616977 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Pica, Hyperactivity, Seizure, Delayed speech and language development, Absent speech, Anxiety, Ir... |
OMIM:617796 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... |
OMIM:620075 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Hypersexuality, Apathy, Repetitive compulsive behavior, Agitation, Polyphagia, Disinhibition |
OMIM:607485 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter, Obsessive-compulsive trait, Low frustration toleranc... |
ORPHA:363686 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Seizure, Delayed speech and language development, Recurrent hand flapping, H... |
OMIM:619680 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Seizure, Impaired social interactions, Delayed speech and language development, Moderate receptiv... |
ORPHA:261197 |
| Progressive Supranuclear Palsy |
|
Delayed speech and language development, Impulsivity, Abnormal synaptic transmission, Depression,... |
ORPHA:683 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Seizure, Absent speech, Compulsive behaviors, Abnormal repetitive mannerisms... |
ORPHA:476126 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Seizure, Repetitive compulsive behavior, Absent speech, Compulsive behaviors, Attention deficit h... |
ORPHA:401777 |
| Smith-Magenis Syndrome |
|
Seizure, Self-injurious behavior, Delayed speech and language development, Abnormal repetitive ma... |
ORPHA:819 |
| 3P25.3 Microdeletion Syndrome |
|
Delayed speech and language development, Generalized myoclonic seizure, Absent speech, Abnormal r... |
ORPHA:435638 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, Bilateral tonic-clonic seizure, Tongue thrusting, Dysphagia, Atypical absence seizure, B... |
ORPHA:98795 |
| White-Sutton Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Aggressive behavior... |
ORPHA:468678 |
| Rett Syndrome |
|
Seizure, Stereotypical hand wringing, Agitation, Abnormal repetitive mannerisms, Absent speech |
ORPHA:778 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
| X-Linked Creatine Transporter Deficiency |
|
Delayed speech and language development, Hyperactivity, Self-mutilation, Seizure |
ORPHA:52503 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms, Seizure, Absent speech |
ORPHA:500159 |
| Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Seizure, Focal-onset seizure, Hypersexuality, Myoclonus, Status epilep... |
ORPHA:217253 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Anxiety, Delayed speech and language development, Ab... |
ORPHA:319182 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Seizure, Absent speech, Low frustration tolerance, Self-mutilation |
OMIM:300486 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Seizure, Delayed speech and language development, Absent speech, Abnormal re... |
ORPHA:457279 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms, Seizure, Absent speech |
ORPHA:261144 |
| Rett Syndrome, Congenital Variant |
|
Seizure, Impaired social interactions, Inappropriate crying, Absent speech, Tongue thrusting, Irr... |
OMIM:613454 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Seizure, Impaired social interactions, Delayed speech and language development, Abn... |
ORPHA:177907 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Seizure |
OMIM:252920 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Seizure, Impaired social interactions, Focal-onset seizure, Emotional lability, Abnormal repetiti... |
ORPHA:300570 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperactivity, Ataxia, Emotional lability |
OMIM:620047 |
| Choreoacanthocytosis |
|
Hyperactivity, Hair-pulling, Aggressive behavior, Seizure, Anxiety, Head-banging, Self-injurious ... |
ORPHA:2388 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Focal-onset seizure, Repeti... |
ORPHA:805 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Seizure, Impaired social interactions, Emotional lability, Lo... |
OMIM:309520 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Seizure, Delayed speech and language development, Emotional lability, Impulsivity,... |
OMIM:610217 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Hyperactivity, Urinary urgency, Nocturia, Urinary hesitancy |
OMIM:609727 |
| 47,Xyy Syndrome |
|
Hyperactivity, Seizure, Impaired social interactions, Delayed speech and language development, Im... |
ORPHA:8 |
| Citrullinemia Type Ii |
|
Hyperactivity, Aggressive behavior, Echolalia, Seizure, Abnormal eating behavior, Irritability, R... |
ORPHA:247585 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Absent ... |
ORPHA:496641 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Impaired social interaction... |
ORPHA:96121 |
| Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
| 2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Seizure, Abnormal repetitive mannerisms, Compulsive beh... |
ORPHA:1001 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Hyperac... |
OMIM:616078 |
| Kleefstra Syndrome |
|
Aggressive behavior, Self-injurious behavior, Seizure, Delayed speech and language development, A... |
ORPHA:261494 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Seizure, Delayed speech and language development, Simple febrile seizure, Absent speech, Abnormal... |
ORPHA:464311 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Seizure, Self-injurio... |
ORPHA:353281 |
| Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
| Early Infantile Epileptic Encephalopathy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:1934 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity, Seizure, Delayed sp... |
ORPHA:464306 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Self-biting, Repetitive compulsive behavior, Absent speech, Abnormal repetitive mannerisms, Reduc... |
ORPHA:522077 |
| Argininemia |
|
Hyperactivity, Spastic gait, Oroticaciduria, Diaminoaciduria, Irritability |
OMIM:207800 |
| Cystinosis |
|
Abnormal repetitive mannerisms, Polydipsia |
ORPHA:213 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Suicidal ideation, Focal-onset seizure, Repetitive compulsive behavior, Clonic seizure, Violent b... |
OMIM:619475 |
| Megalocornea-Intellectual Disability Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:2479 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Seizure, Delayed speech and language development, Bruxism |
ORPHA:48652 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Delayed speech and langua... |
ORPHA:513456 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Generalized-onset seizure, Seizure, Absent speech, Abnormal repetitive mannerisms, No social inte... |
ORPHA:508533 |
| Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Palilalia, Hyperactivity, Depression, Dysphagia, Phonic tics, Motor tics, Obsessive-compulsive trait |
OMIM:234200 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Seizure, Self-injurio... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Seizure, Self-injurio... |
ORPHA:353277 |
| Dilated Cardiomyopathy With Ataxia |
|
Repetitive compulsive behavior, Seizure |
ORPHA:66634 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Aggressive behavior, Seizure, Abnormal repetitive mannerisms, Impulsivity |
ORPHA:580 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms |
ORPHA:468631 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Attention... |
ORPHA:534 |
| 1P36 Deletion Syndrome |
|
Seizure, Self-injurious behavior, Delayed speech and language development, Absent speech, Abnorma... |
ORPHA:1606 |
| Norrie Disease |
|
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity... |
ORPHA:649 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
| Mowat-Wilson Syndrome |
|
Seizure, Anxiety, Impaired social interactions, Focal-onset seizure, Status epilepticus, Happy de... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Seizure, Focal-onset seizure, Happy demeanor, Absent speech, Abnormal repetitive mannerisms, Expr... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Seizure, Focal-onset seizure, Happy demeanor, Absent speech, Abnormal repetitive mannerisms, Expr... |
ORPHA:261552 |
