Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Impaired soci... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
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 Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300425 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal r... |
OMIM:619150 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, EEG abnormality, Agitation, Emotional lability, Abnormal repetitive mannerisms |
OMIM:617171 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... |
OMIM:172700 |
Hereditary Geniospasm |
|
EEG abnormality, Abnormal social behavior |
ORPHA:53372 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
N-Acetylaspartate Deficiency |
|
Short attention span, Abnormal repetitive mannerisms, Self-mutilation, Truncal ataxia |
OMIM:614063 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions, EEG abnorm... |
OMIM:617820 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:239500 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar vermis, Retroc... |
ORPHA:137831 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, EEG abnormality, Abnormal repe... |
OMIM:608049 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait... |
ORPHA:208513 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Hsd10 Disease |
|
Short attention span, Ataxia, Choreoathetosis, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Foxg1 Syndrome |
|
Abnormal repetitive mannerisms, Choreoathetosis, Impaired social interactions, Bruxism, Cognitive... |
ORPHA:561854 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor... |
OMIM:300495 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ... |
OMIM:610042 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... |
ORPHA:444002 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:617830 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing |
ORPHA:397933 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, EEG abnormality, Bruxism, Abnormal repetitive mannerisms,... |
OMIM:618718 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, EE... |
ORPHA:168491 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... |
OMIM:612069 |
Pontocerebellar Hypoplasia, Type 11 |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Self-injurious behavior, Agenesis of corpus callosum... |
OMIM:617695 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Dysmetria, Depression, Gait ataxia, Limb ataxia,... |
OMIM:615157 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Interictal EEG abnormality, Depression, Dementia, Progressive language deteri... |
ORPHA:79264 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal ... |
OMIM:618917 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:616341 |
Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Hypsarrhythmia, Athetosis, EEG abnormality, Recurrent hand flapping |
OMIM:618141 |
Baker-Gordon Syndrome |
|
Ataxia, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal repetitive mannerisms |
OMIM:618218 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Christianson Syndrome |
|
Cerebellar atrophy, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Aplasia/Hypop... |
ORPHA:85278 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... |
ORPHA:449291 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Childhood Absence Epilepsy |
|
Depression, Punding, Attention deficit hyperactivity disorder, Abnormal social behavior, EEG with... |
ORPHA:64280 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Short attention span, Ataxia, Impulsivity, Aggressive behavior, Tongue thrust... |
OMIM:619580 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Chorea, Depression, Impaired social interactions... |
OMIM:619738 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Abnormal repetitive mannerisms, Shyness |
ORPHA:280763 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, Depression, EEG with focal spikes, Interictal epilepti... |
ORPHA:98784 |
Atypical Rett Syndrome |
|
Restrictive behavior, Impaired pain sensation, Tongue thrusting, Gait ataxia, EEG abnormality, Ag... |
ORPHA:3095 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Ataxia, Impulsivity, Pontocerebellar atrophy, Lateral ventric... |
OMIM:617854 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A... |
OMIM:301029 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, EEG with ir... |
ORPHA:1942 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms, Cerebellar ver... |
OMIM:617435 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver... |
OMIM:618347 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria... |
OMIM:620242 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Chor... |
OMIM:619317 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, C... |
ORPHA:370022 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... |
ORPHA:3077 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Decreased nerve conduction velocity, Chorea, Progressive psychomotor deteri... |
ORPHA:309271 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive manne... |
ORPHA:927 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... |
OMIM:607485 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Abnormal repetitive mannerisms |
OMIM:617393 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Inappropriate laughter, Abnormal repetitive mannerisms, Stereotypical hand... |
OMIM:614104 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... |
ORPHA:309263 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... |
ORPHA:352490 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Lateral ventricle dilatati... |
OMIM:617751 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... |
OMIM:618342 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Head-banging, EEG abnormality, Onychotillom... |
OMIM:182290 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Irritability, Athetosis, EEG abnormality, Impaired social interactions,... |
OMIM:613454 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... |
ORPHA:2828 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Abnormal repetitive mannerisms, Multifocal epileptiform discharges, Hypsa... |
ORPHA:411986 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Impaired soc... |
OMIM:615656 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... |
OMIM:300486 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Cerebellar hypoplasia, Attention deficit hy... |
OMIM:300986 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Partial agenesis of the corpu... |
ORPHA:300570 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical b... |
OMIM:300912 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Abnormal repetitive mannerisms |
OMIM:613443 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Continuous spike and waves dur... |
OMIM:619428 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Impaired tactile sensation, Abnormal repetitive mannerisms, Ataxia, Gait ataxia |
OMIM:619092 |
Xq28 (MECP2) duplication |
|
Gait ataxia, Depression, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Decreased amplitude of sensory action potentials, Impaired vibrator... |
ORPHA:2388 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Agenesis of corpus callosum, Athetosis, Cerebel... |
OMIM:619435 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Chiari malformation, Low frustration tolerance, Attention deficit hyperac... |
OMIM:619293 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Ab... |
OMIM:600430 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Dysmetria, Positive Romberg sign, Cerebellar hypoplasia, Nonprogress... |
ORPHA:314647 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Impaired social interaction... |
ORPHA:8 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Head-ban... |
OMIM:619103 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Developmental And Epileptic Encephalopathy 64 |
|
Chorea, Self-injurious behavior, Cerebellar hypoplasia, Bruxism, Abnormal repetitive mannerisms |
OMIM:618004 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Abnormal repetitive mannerisms, Self-mutilation, Cerebellar dysplasia |
ORPHA:457240 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Chiari type I malformation, Choreoathetosis, Impaired social interactions, Attention deficit hype... |
ORPHA:261197 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Bruxism, Depression, Hostilit... |
OMIM:300260 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Gait ataxia, Progressive gait ataxia, Emotional lability, Ab... |
ORPHA:309256 |
Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mu... |
OMIM:123450 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Cerebellar ... |
ORPHA:238750 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Elongated superior cerebellar ped... |
OMIM:610688 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... |
ORPHA:208447 |
Potocki-Lupski Syndrome |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
OMIM:610883 |
48,Xxyy Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression |
ORPHA:10 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Abnormal repetitive mannerisms |
ORPHA:228384 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Abnormal repetitive mannerisms, Interictal epileptiform activity, Dysphagia |
OMIM:617802 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, EEG with focal spike waves, Ataxia, Multifocal epileptiform discharges, Hyp... |
OMIM:619229 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Chorea, Mental deterioration, ... |
ORPHA:646 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Dysmetria, Attention deficit hyperactivity disorder, Truncal ataxia, Abnorma... |
OMIM:619121 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:617807 |
48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:619877 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms |
OMIM:618430 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Agenesis of corpus callosum, Attention deficit hyperact... |
OMIM:619312 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia... |
OMIM:617061 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Chiari type I malformation, Compulsive behaviors, Abnormal... |
OMIM:618027 |
Developmental And Epileptic Encephalopathy 66 |
|
Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms |
OMIM:618067 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Attent... |
OMIM:620073 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, EEG with generalized slow activity |
ORPHA:397612 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Fg Syndrome Type 1 |
|
Abnormal cerebellum morphology, Attention deficit hyperactivity disorder, Abnormal social behavio... |
ORPHA:93932 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms, Cerebellar hypoplasia, Cerebellar dysplasia |
ORPHA:500159 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking, Compulsive be... |
ORPHA:177907 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Agenesis of corpus callosum, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Inappr... |
OMIM:615802 |
Houge-Janssens Syndrome 3 |
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Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... |
OMIM:618914 |
Cerebral Creatine Deficiency Syndrome 1 |
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Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... |
OMIM:300352 |
Smith-Magenis Syndrome |
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Impaired pain sensation, EEG abnormality, Self-injurious behavior, Attention deficit hyperactivit... |
ORPHA:819 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
X-Linked Intellectual Disability, Cantagrel Type |
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Abnormal repetitive mannerisms |
ORPHA:85277 |
Alazami Syndrome |
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Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Short attention span, Head-banging, Chiari type I malformation, Self-injurious behavior, Lateral ... |
OMIM:619575 |
Chromosome 5P13 Duplication Syndrome |
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Self-injurious behavior, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:613174 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms |
OMIM:617796 |
Snijders Blok-Campeau Syndrome |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618205 |
Nmda Receptor Encephalitis |
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Short attention span, Confusion, Hypersexuality, Chorea, EEG with temporal sharp slow waves, Depr... |
ORPHA:217253 |
22Q11.2 Duplication Syndrome |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Hair-pulling, Hypsarrhythmia, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Phelan-Mcdermid Syndrome |
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Aggressive behavior, Impaired pain sensation, Tongue thrusting, Impaired social interactions, Bru... |
OMIM:606232 |
Hijazi-Reis Syndrome |
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Abnormal repetitive mannerisms |
OMIM:301094 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Ataxia, Aggressive behavior, Lateral ventricle dilatation, Low frustration tolerance, Abnormal te... |
ORPHA:457279 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
ORPHA:476126 |
3P25.3 Microdeletion Syndrome |
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Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:435638 |
White-Sutton Syndrome |
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Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, Abnormal repetit... |
OMIM:616364 |
White-Sutton Syndrome |
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Cerebellar atrophy, Hyperactivity, Aggressive behavior, Hypoplasia of the pons, Self-injurious be... |
ORPHA:468678 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... |
OMIM:619475 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Rett Syndrome |
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EEG abnormality, Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
Van Esch-O'Driscoll Syndrome |
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Cerebellar atrophy, Impulsivity, Shyness, Attention deficit hyperactivity disorder, Abnormal repe... |
OMIM:301030 |
Transketolase Deficiency |
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Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Niemann-Pick Disease, Type C2 |
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Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia |
OMIM:607625 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Multifocal epileptiform discharges, EEG abnormality, Irritability, Abnormal social behavior, Abno... |
ORPHA:1675 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormality, Self-injurious behavior, Abno... |
ORPHA:457351 |
Megalocornea-Intellectual Disability Syndrome |
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EEG abnormality, Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Pain insensitivity, Cerebellar vermis hypoplasia, Aggressive behavior, Hair-pulling,... |
OMIM:620330 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe... |
OMIM:619005 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Agenesis of corpus callosum, Abnormal repetitive mannerisms |
ORPHA:261144 |
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 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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EEG with focal epileptiform discharges, Chiari type I malformation, EEG abnormality, Inappropriat... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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EEG with focal epileptiform discharges, Chiari type I malformation, EEG abnormality, Inappropriat... |
ORPHA:363958 |
Mend Syndrome |
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Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Abnormal social behavior... |
ORPHA:401973 |
Congenital Disorder Of Glycosylation, Type Iia |
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Aggressive behavior, Cerebellar hypoplasia, Abnormal repetitive mannerisms, Self-mutilation, Ster... |
OMIM:212066 |
7Q11.23 Microduplication Syndrome |
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Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Dysmetria, Self-injurious behavior... |
ORPHA:96121 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Self-injurious be... |
OMIM:619512 |
2Q37 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Cerebellar atrophy, Abnormal repetitive mannerisms, Ataxia, Dysphagia |
ORPHA:496641 |
Monosomy 22Q13.3 |
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Hyperactivity, Impaired pain sensation, Hair-pulling, Bruxism, Agenesis of corpus callosum, Cereb... |
ORPHA:48652 |
Wiedemann-Steiner Syndrome |
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Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat... |
ORPHA:319182 |
Bainbridge-Ropers Syndrome |
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Self-injurious behavior, Lateral ventricle dilatation, Inferior cerebellar vermis hypoplasia, Rec... |
OMIM:615485 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:529965 |
Developmental And Epileptic Encephalopathy 2 |
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EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:300672 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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EEG with parietal focal spikes, Short attention span, Aggressive behavior, EEG with central focal... |
OMIM:301066 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Cerebellar atrophy, Pain insensitivity, Cerebellar vermis hypoplasia, Ataxia, Truncal ataxia, Dys... |
OMIM:617330 |
Cystinosis |
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Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Pilarowski-Bjornsson Syndrome |
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Abnormal repetitive mannerisms |
OMIM:617682 |
Mucopolysaccharidosis Type 2 |
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Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... |
ORPHA:580 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Lateral ventricle dilatatio... |
OMIM:615873 |
Kleefstra Syndrome 1 |
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Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Kleefstra Syndrome |
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Aggressive behavior, Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus ... |
ORPHA:261494 |
Rauch-Steindl Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Hydroxykynureninuria |
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Abnormal repetitive mannerisms |
ORPHA:79155 |
Developmental And Epileptic Encephalopathy 100 |
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Chorea, EEG with photoparoxysmal response, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repe... |
OMIM:619777 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Abnormal lateral ventricle morphology, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Self-injurious behav... |
ORPHA:468631 |
Pitt-Hopkins Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Trichothiodystrophy |
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Reduced social reciprocity, Partial agenesis of the corpus callosum, Diffuse cerebellar atrophy, ... |
ORPHA:33364 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Attent... |
OMIM:614756 |
Kinsship Syndrome |
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Abnormal repetitive mannerisms, Dandy-Walker malformation, Bruxism |
OMIM:619297 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Cerebellar hypoplasia, A... |
ORPHA:513456 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:464311 |
Oculocerebrorenal Syndrome Of Lowe |
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Depression, Self-injurious behavior, EEG abnormality, Compulsive behaviors, Attention deficit hyp... |
ORPHA:534 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Abnormal repetitive mannerisms |
OMIM:301040 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:508533 |
Williams Syndrome |
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Ataxia, Dysmetria, Depression, Chiari malformation, Compulsive behaviors, Attention deficit hyper... |
ORPHA:904 |
Norrie Disease |
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Self-injurious behavior, Irritability, EEG abnormality, Attention deficit hyperactivity disorder,... |
ORPHA:649 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Agenesis of corpus callosum, Abnormal repetitive mannerisms |
ORPHA:508498 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms |
ORPHA:464306 |
1P36 Deletion Syndrome |
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Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, EEG abnormality, Dysphagia, ... |
ORPHA:1606 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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EEG abnormality, Abnormal repetitive mannerisms, Hypsarrhythmia |
OMIM:301044 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Abnormal repetitive mannerisms |
OMIM:618653 |
Ogden Syndrome |
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Irritability, Abnormal repetitive mannerisms, Dysphagia |
OMIM:300855 |
Mowat-Wilson Syndrome |
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Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Impaired pain sensation, Enl... |
ORPHA:2152 |
Arboleda-Tham Syndrome |
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Abnormal repetitive mannerisms, Dysphagia |
OMIM:616268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sensation, Enlarged ce... |
ORPHA:261537 |
Coffin-Siris Syndrome 12 |
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Enlarged cerebellum, Chiari malformation, Abnormal repetitive mannerisms |
OMIM:619325 |
Wolf-Hirschhorn Syndrome |
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Agenesis of corpus callosum, Abnormal repetitive mannerisms, EEG abnormality |
OMIM:194190 |
Primrose Syndrome |
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Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyper... |
OMIM:259050 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Impaired pain sensation, Enlarged ce... |
ORPHA:261552 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:619522 |
Lowe Oculocerebrorenal Syndrome |
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Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Abnormal repetitive mannerisms |
OMIM:616682 |