Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Impaired ability to form peer relationships... |
OMIM:608636 |
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 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Shyness |
OMIM:618221 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chore... |
OMIM:619150 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Seizure, Dementia, Abnormal emotion, Progressive language ... |
ORPHA:168782 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab... |
OMIM:617171 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Abnormal eating ... |
ORPHA:101039 |
Hereditary Geniospasm |
|
Abnormal social behavior, Chin myoclonus, Intention tremor |
ORPHA:53372 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Tremor, Chorea, Depression, Inappropriate behavior, Myoclonus, Cognitive impairment, Dyst... |
ORPHA:401901 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Postural tremor, Kinetic tremor, Myoclonus, Impaired social interactions, Atonic sei... |
OMIM:611092 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropria... |
OMIM:172700 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Seizure, Impaired social interactions, Dystonia, Abnormal repetitive man... |
OMIM:617820 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Foxg1 Syndrome |
|
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Bruxism, Choreoa... |
ORPHA:561854 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
N-Acetylaspartate Deficiency |
|
Short attention span, Seizure, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Choreoathetosis, Seizure, Myoclonus, Dysphagia, Abnormal so... |
ORPHA:391417 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:608049 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Irritability, Seizure, Abnormal repetitive ... |
OMIM:617393 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Seizure, Dementia, Agitation, Semantic dementia, Disinhibition, Myoclonus, Mem... |
ORPHA:1020 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abn... |
OMIM:617862 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Seizure, Stereotypical hand wringing, Impaired social interactions |
ORPHA:397933 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Dystonia, Oculogyric crisis, Chorea, Myoclonic seizure, Self-injurious behavior,... |
OMIM:614254 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Seizure, Bruxism, Abnormal repetitive mannerisms,... |
OMIM:618718 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset seizure, Chorea, Gait ... |
OMIM:618917 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... |
OMIM:239500 |
Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggre... |
OMIM:619580 |
Atypical Rett Syndrome |
|
Restrictive behavior, Infantile spasms, Impaired pain sensation, Tremor, Tongue thrusting, Gait a... |
ORPHA:3095 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Ab... |
ORPHA:444002 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... |
OMIM:612069 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Aggressive behavior, Tremor, Chorea, Depression, Impaired social interactions, ... |
OMIM:619738 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Tremor, Eating-induced seizure, Impa... |
ORPHA:544254 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Chorea, Nocturnal seizures, Myoclonus, At... |
OMIM:619725 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... |
ORPHA:449291 |
Developmental And Epileptic Encephalopathy 58 |
|
Seizure, Abnormal repetitive mannerisms, Status epilepticus |
OMIM:617830 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Atonic seizure, Agg... |
ORPHA:168491 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Seizure, Abnormal repetitive mannerisms |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Seizure, Dystonia, Abnormal repetitive mannerisms, Shyness |
ORPHA:280763 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Atonic seizure, Ora... |
ORPHA:208447 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Christianson Syndrome |
|
Generalized-onset seizure, Dystonia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphag... |
ORPHA:85278 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Clonic seizure |
OMIM:615282 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Depression, Atte... |
ORPHA:98784 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... |
ORPHA:33543 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
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 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Seizure, Abnormal temper tantrums, Abnormal social behavior, Abnormal repe... |
ORPHA:530983 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Seizure, Inappropriate laughter, Febrile seizure (within the age range of ... |
OMIM:614104 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Depression, Seizure, Dementia, Progressive language deterioration... |
ORPHA:79264 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Seizure, Polyphag... |
ORPHA:228402 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... |
OMIM:619092 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, M... |
OMIM:617600 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Bruxism, Seizure, Agitation, Focal impaired awareness seizure, Dysphagia, Abnor... |
OMIM:617435 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Seizure, Agitation, Cognitive impairment, Emotional lability, Abnormal repetit... |
ORPHA:927 |
Baker-Gordon Syndrome |
|
Ataxia, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms |
OMIM:618218 |
Xq28 (MECP2) duplication |
|
Gait ataxia, Depression, Seizure, Dysphagia, Abnormal repetitive mannerisms |
DECIPHER:45 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attenti... |
OMIM:620242 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Irritability, Seizure, Athetosis, Impaired social interaction... |
OMIM:613454 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Emotional lability, Depressi... |
ORPHA:309271 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Atonic seizure, Aggressive behavior, Tonic... |
OMIM:300912 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Seizure, Progressive gait ataxia, Dy... |
ORPHA:309263 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Pontocerebellar Hypoplasia, Type 11 |
|
Ataxia, Limb ataxia, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... |
OMIM:617695 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure |
OMIM:619690 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, ... |
ORPHA:98794 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
Young-Onset Parkinson Disease |
|
Short attention span, Restless legs, Dystonia, Impulsivity, Tremor, Depression, Frontal lobe deme... |
ORPHA:2828 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Seizure, Diminished ability to concentrate, Compulsive behaviors, Impaired social interac... |
OMIM:615656 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Tonic seizure, Repetitive compulsive behavior, Chorea, Generalized no... |
OMIM:300260 |
Galloway-Mowat Syndrome 6 |
|
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Abnormal repetitive mannerisms, Self... |
ORPHA:457240 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obses... |
OMIM:618825 |
Choreoacanthocytosis |
|
Chorea, Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Impaired... |
ORPHA:2388 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Seizure, Compulsive behaviors, Attention deficit h... |
ORPHA:352490 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... |
OMIM:618342 |
Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Abnormal rep... |
OMIM:301029 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharospasm, Limb dystonia, ... |
ORPHA:93958 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
48,Xxyy Syndrome |
|
Ataxia, Tremor, Depression, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitiv... |
ORPHA:10 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Choreoathetosis, Seizure, Impaired social interactions, Attention deficit hyperactivity... |
ORPHA:261197 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Progressive gait... |
ORPHA:646 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Seizure, Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social beha... |
ORPHA:309256 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Chorea, Self-injurious behavior, Seizure, Status epilepticus, Brux... |
OMIM:618004 |
Nmda Receptor Encephalitis |
|
Short attention span, Generalized-onset seizure, Confusion, Oculogyric crisis, Hypersexuality, Fo... |
ORPHA:217253 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Atonic seizure, Generalized non-motor (absence) seizure, Focal impaired awarene... |
ORPHA:411986 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Dystonia, Aggressive behavior, Seizure, Impaired social interactions, Attention deficit hyperacti... |
OMIM:300352 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Self-injurious behavior, Seizure, Skin-pi... |
OMIM:600430 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, ... |
ORPHA:314647 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, Seizure, Onychotillomania, Ab... |
OMIM:182290 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... |
ORPHA:313892 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Torticollis, Focal-onset seizure, Delayed early-childhood s... |
ORPHA:300570 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Seizure, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive... |
OMIM:619293 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... |
OMIM:617044 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Ab... |
OMIM:616393 |
Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Attention de... |
OMIM:300986 |
Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mu... |
OMIM:123450 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Seizure, Low frustration tolerance, Abnormal repetitive mannerisms, S... |
OMIM:300486 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Seizure, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
48,Xxxy Syndrome |
|
Tremor, Irritability, Seizure, Attention deficit hyperactivity disorder, Abnormal social behavior... |
ORPHA:96263 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Seizure, Compulsive beh... |
OMIM:617061 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Focal myoc... |
OMIM:619229 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Ataxia, Impulsivity, Aggressive behavior, Focal-onset seizure, Ch... |
OMIM:619435 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Myoc... |
ORPHA:447997 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Pica, Irritability, Seizure, Obsessive-compulsive trait, Abnormal repetitive manne... |
OMIM:617796 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l... |
OMIM:607485 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Generalized-onset seizure, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:617807 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:619877 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitive ma... |
OMIM:618430 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms |
ORPHA:238750 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Seizure, Attention deficit hyperactivity disord... |
OMIM:619312 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:85277 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms |
ORPHA:3306 |
Alazami Syndrome |
|
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... |
ORPHA:319671 |
Potocki-Lupski Syndrome |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
OMIM:610883 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:613443 |
Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Impaired pain sensation, Tongue thrusting, Seizure, Impaired social interact... |
OMIM:606232 |
Snijders Blok-Campeau Syndrome |
|
Abnormal repetitive mannerisms, Infantile spasms, Attention deficit hyperactivity disorder, Myocl... |
OMIM:618205 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Seizure, Compulsive behaviors, Attention deficit hypera... |
ORPHA:476126 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Irritability, Self-injurious behavior,... |
OMIM:616364 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Generalized non-motor (absence) seizure, Abnormal repetitive mannerisms, Inappropriate laughter, ... |
OMIM:615802 |
Niemann-Pick Disease, Type C2 |
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Dystonia, Ataxia, Seizure, Dementia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:607625 |
5Q14.3 Microdeletion Syndrome |
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Seizure, Abnormal repetitive mannerisms |
ORPHA:228384 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
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Aggressive behavior, Dysmetria, Attention deficit hyperactivity disorder, Truncal ataxia, Abnorma... |
OMIM:619121 |
Hijazi-Reis Syndrome |
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Seizure, Abnormal repetitive mannerisms |
OMIM:301094 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor, Res... |
OMIM:619475 |
3P25.3 Microdeletion Syndrome |
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Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Attention defici... |
ORPHA:435638 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Pain insensitivity, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pullin... |
OMIM:620330 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Ataxia, Aggressive behavior, Seizure, Low frustration tolerance, Abnormal temper tantrums, Abnorm... |
ORPHA:457279 |
22Q11.2 Duplication Syndrome |
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Seizure, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit hyperactivity di... |
ORPHA:1727 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Focal-onset seizure, Seizure, Status epilepticus, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617802 |
Tuberous Sclerosis Complex |
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Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... |
ORPHA:805 |
Developmental And Epileptic Encephalopathy 100 |
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Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... |
OMIM:619103 |
Smith-Magenis Syndrome |
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Impaired pain sensation, Self-injurious behavior, Seizure, Attention deficit hyperactivity disord... |
ORPHA:819 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... |
OMIM:620073 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Myoclonic seizure, Abnormal repetitive mannerisms, Infantile spasms, Dysphagia |
ORPHA:572013 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
Prader-Willi Syndrome Due To Translocation |
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Head-banging, Seizure, Compulsive behaviors, Impaired social interactions, Attention deficit hype... |
ORPHA:177907 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Self-i... |
ORPHA:457351 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
Chromosome 5P13 Duplication Syndrome |
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Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
Macrocephaly-Developmental Delay Syndrome |
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Self-injurious behavior, Seizure, Abnormal repetitive mannerisms |
ORPHA:397612 |
Fg Syndrome Type 1 |
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Compulsive behaviors, Seizure, Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:93932 |
Coffin-Siris Syndrome 7 |
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Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Developmental And Epileptic Encephalopathy 2 |
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Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... |
OMIM:300672 |
Van Esch-O'Driscoll Syndrome |
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Impulsivity, Shyness, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
OMIM:301030 |
Wiedemann-Steiner Syndrome |
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Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Seizure, Low... |
ORPHA:319182 |
Rett Syndrome |
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Seizure, Agitation, Dystonia, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
Trichotillomania |
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Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Seizure, Abnormal repetitive mannerisms |
ORPHA:500159 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Dystonia, Bilateral tonic-clonic seizure, Ataxia, Dysphagia, Febrile seizure (within the age rang... |
ORPHA:496641 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Focal motor seizure, Irritability, Seizure, Febrile seizure (within the age range of 3 months to ... |
ORPHA:1675 |
Pilarowski-Bjornsson Syndrome |
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Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
7Q11.23 Microduplication Syndrome |
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Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Dysmetria, Self-injurious behavior... |
ORPHA:96121 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
2Q37 Microdeletion Syndrome |
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Seizure, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit hyperactivity di... |
ORPHA:1001 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Short attention span, Head-banging, Self-injurious behavior, Seizure, Attention deficit hyperacti... |
OMIM:619575 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Abnormal ... |
ORPHA:522077 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, D... |
OMIM:615873 |
Transketolase Deficiency |
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Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... |
ORPHA:488618 |
Megalocornea-Intellectual Disability Syndrome |
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Seizure, Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Seizure, Abnormal repetitive mannerisms |
ORPHA:261144 |
Kleefstra Syndrome 1 |
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Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
White-Sutton Syndrome |
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Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Focal impaired awareness se... |
ORPHA:468678 |
Congenital Disorder Of Glycosylation, Type Iia |
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Aggressive behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand... |
OMIM:212066 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Impaired pain sensation, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive m... |
OMIM:619005 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Mend Syndrome |
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Seizure, Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Generalized myoclonic... |
OMIM:614756 |
Joubert Syndrome 6 |
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Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Kleefstra Syndrome |
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Aggressive behavior, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Self-mutil... |
ORPHA:261494 |
Pitt-Hopkins Syndrome |
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Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Cystinosis |
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Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Mucopolysaccharidosis Type 2 |
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Short attention span, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, I... |
ORPHA:580 |
Bainbridge-Ropers Syndrome |
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Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms, Seizure |
OMIM:615485 |
Rauch-Steindl Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Short attention span, Multifocal seizures, Aggressive behavior, Seizure, Abnormal repetitive mann... |
OMIM:301066 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Seizure, Dysphagia, Abnormal ... |
OMIM:617330 |
Monosomy 22Q13.3 |
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Hyperactivity, Impaired pain sensation, Hair-pulling, Seizure, Bruxism |
ORPHA:48652 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Generalized-onset seizure, Focal hemiclonic seizure, Focal-onset seizure, Seizure, Inappropriate ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Generalized-onset seizure, Focal hemiclonic seizure, Focal-onset seizure, Seizure, Inappropriate ... |
ORPHA:363958 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... |
OMIM:619512 |
Hydroxykynureninuria |
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Abnormal repetitive mannerisms |
ORPHA:79155 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Generalized-onset seizure, Opisthotonus, Seizure, Abnormal repetitive mannerisms, Focal myoclonic... |
ORPHA:508533 |
Kinsship Syndrome |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619297 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... |
ORPHA:513456 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure |
OMIM:301040 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Seizure, Abnormal repetitive mannerisms, Simple febrile seizure, Attention deficit hyperactivity ... |
ORPHA:464311 |
Oculocerebrorenal Syndrome Of Lowe |
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Depression, Self-injurious behavior, Seizure, Compulsive behaviors, Attention deficit hyperactivi... |
ORPHA:534 |
Ogden Syndrome |
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Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Irritability, Dysphagia, ... |
OMIM:300855 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Febrile seizure (within the age range of 3 months to 6 years), Seizure, Hyperactivity, Abnormal r... |
ORPHA:464306 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Self-injurious behavior, Seizure, Abnormal repetitive mannerisms |
ORPHA:468631 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu... |
OMIM:301044 |
Arboleda-Tham Syndrome |
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Seizure, Dystonia, Abnormal repetitive mannerisms, Dysphagia |
OMIM:616268 |
Norrie Disease |
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Irritability, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:649 |
Williams Syndrome |
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Ataxia, Tremor, Dysmetria, Depression, Compulsive behaviors, Attention deficit hyperactivity diso... |
ORPHA:904 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Self-injurious b... |
OMIM:612474 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnor... |
OMIM:619522 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:508498 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Abnormal repetitive mannerisms |
OMIM:618653 |
Primrose Syndrome |
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Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Seizure, Tics, Attention defi... |
OMIM:259050 |
1P36 Deletion Syndrome |
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Polyphagia, Self-injurious behavior, Seizure, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:1606 |
Mowat-Wilson Syndrome |
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Ataxia, Impaired pain sensation, Focal-onset seizure, Bruxism, Seizure, Status epilepticus, Atypi... |
ORPHA:2152 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Seizure, Abnormal repetitive mannerisms |
OMIM:616682 |
Coffin-Siris Syndrome 12 |
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Seizure, Abnormal repetitive mannerisms |
OMIM:619325 |
Lowe Oculocerebrorenal Syndrome |
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Seizure, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Wolf-Hirschhorn Syndrome |
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Seizure, Abnormal repetitive mannerisms |
OMIM:194190 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Impaired pain sensation, Focal-onset seizure, Bruxism, Seizure, Atypical absence seizure, Dysphag... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Impaired pain sensation, Focal-onset seizure, Bruxism, Seizure, Atypical absence seizure, Dysphag... |
ORPHA:261552 |