Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Increased serum... |
OMIM:608636 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:209850 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autism, Susceptibility To, X-Linked 3 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300425 |
N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... |
OMIM:614063 |
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 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... |
OMIM:172700 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior |
OMIM:617171 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Frontotemporal dementia, Disinhibition, Dysphagia, Emotional labil... |
OMIM:612069 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... |
OMIM:619150 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Autism, Susceptibility To, X-Linked 2 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300495 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Irritability, Bradykine... |
ORPHA:248111 |
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 Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Foxg1 Syndrome |
|
Inability to walk, Choreoathetosis, Cognitive impairment, Bruxism, Difficulty walking, Impaired s... |
ORPHA:561854 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Ataxia |
OMIM:615924 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social inter... |
OMIM:617820 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:608049 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves, Mental dete... |
ORPHA:2382 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Shy... |
ORPHA:449291 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... |
OMIM:617695 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin... |
ORPHA:33543 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Increased circulating ACTH level... |
ORPHA:43 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Hsd10 Disease |
|
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Simplified gyral pattern, Abnormalit... |
OMIM:604317 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive manne... |
ORPHA:927 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Abnormality of neuro... |
ORPHA:163681 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno... |
ORPHA:1020 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Multifocal epileptiform discharges, Dysmetria, Dysdia... |
ORPHA:228360 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Chorea, Bradykinesia, Attention deficit hyperactivity disorder, Abnormal repetitive manne... |
OMIM:619725 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... |
OMIM:619580 |
Rasmussen Subacute Encephalitis |
|
Hyperactivity, Increased theta frequency activity in EEG, Emotional lability, EEG with focal epil... |
ORPHA:1929 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o... |
ORPHA:79264 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... |
OMIM:618917 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Progressive psychomotor deterioration, Hyperinsulinemia, Gait ataxia, Cogn... |
ORPHA:363400 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... |
OMIM:617044 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement... |
ORPHA:168491 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... |
ORPHA:352490 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... |
OMIM:618342 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma... |
OMIM:617600 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Dysphagia, Abnormal repetitive mannerisms |
DECIPHER:45 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Elevated circulating growth hormone concentration, Decreased... |
OMIM:608747 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis |
ORPHA:382 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Abnormal repetitive mannerisms, Difficulty walking, Shyness |
ORPHA:280763 |
Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Bruxism, Bradykinesia, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... |
OMIM:614104 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... |
ORPHA:98794 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Cognitive impairment, D... |
ORPHA:98784 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Frontotemporal dementia, Hypersexuality, Agitation, Progressive l... |
OMIM:607485 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short attention span, Hyperactivity, Restlessness, Aggressive behavior, Agitation |
OMIM:300558 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Ina... |
ORPHA:139396 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
48,Xxyy Syndrome |
|
Ataxia, Hypergonadotropic hypogonadism, Depression, Type II diabetes mellitus, Attention deficit ... |
ORPHA:10 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Christianson Syndrome |
|
Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive mannerisms |
ORPHA:85278 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Diminished ability to concentrate, Compulsive behaviors, Attention deficit hyperactivity ... |
OMIM:615656 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Abnormal repetitive mannerisms |
OMIM:619317 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... |
ORPHA:500180 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Bradykinesia, D... |
OMIM:610217 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att... |
OMIM:300986 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Unsteady gait, Abnormal emotion, Attention deficit hyperactivity disorder,... |
ORPHA:1942 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Hypothyroidism, Self-injurious behavior, ... |
OMIM:600430 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Short attention span, Diabetes mellitus, Repetitive compulsive behavior, Attention deficit hypera... |
ORPHA:391372 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Abnormality of the thyroid gland, Self hugging, Head-bang... |
OMIM:182290 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Ataxia, Decreased response to growth hormone stimulation test, Depression, Self-in... |
OMIM:601853 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Impaired tactile sensation, Abnormal repetitive mannerisms, Ataxia, Gait ataxia |
OMIM:619092 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Depression, Gait disturbance, Abnormal rep... |
ORPHA:457240 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Inability to walk, Chorea, Bruxism, D... |
OMIM:300260 |
Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive... |
OMIM:123450 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Attention deficit hyperacti... |
ORPHA:8 |
Rett Syndrome |
|
Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, Increased serum... |
ORPHA:778 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased response... |
OMIM:618347 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ... |
OMIM:617302 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... |
OMIM:618205 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-mutilation o... |
ORPHA:2388 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Delayed me... |
ORPHA:247585 |
22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of the thymus, Attention... |
ORPHA:1727 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Precocious puberty, Gait imbalance, Attention deficit h... |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Central hypothyroidism, Stereot... |
OMIM:300912 |
Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Irritability, Athetosis, Impaired social interactions, Bruxism, Abnorma... |
OMIM:613454 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... |
OMIM:300352 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Self-biting, Hypogonadism, Abnormal repet... |
ORPHA:3306 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Inability to walk, Abnormal repetitive mannerisms |
OMIM:619877 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... |
OMIM:619293 |
Transketolase Deficiency |
|
Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Type I d... |
ORPHA:488618 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Short attention span, Hyperactivity, Hypoparathyroidism, Ataxia, Thyroid hemi... |
ORPHA:209905 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia... |
OMIM:617061 |
Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:618004 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Hypothyroidism, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitiv... |
OMIM:617796 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... |
OMIM:300486 |
Smith-Magenis Syndrome |
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Impaired pain sensation, Precocious puberty, Hypothyroidism, Self-injurious behavior, Gait distur... |
ORPHA:819 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
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Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms |
OMIM:618430 |
Proximal 16P11.2 Microdeletion Syndrome |
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Choreoathetosis, Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit ... |
ORPHA:261197 |
Potocki-Lupski Syndrome |
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Hypothyroidism, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
OMIM:610883 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Inability to walk, Abnormal repetitive mannerisms |
OMIM:613443 |
Mucopolysaccharidosis, Type Iiib |
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Hyperactivity, Progressive neurologic deterioration, Aggressive behavior |
OMIM:252920 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
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Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia |
OMIM:617807 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inability to walk, Abnormal repetitive mannerisms |
ORPHA:411986 |
Hijazi-Reis Syndrome |
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Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Spastic ataxia, Short attention span, Inability to walk, Delayed early-childhood social milestone... |
ORPHA:300570 |
Ritscher-Schinzel Syndrome 4 |
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Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... |
OMIM:619435 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Precocious puberty, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Optic Atrophy-Intellectual Disability Syndrome |
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Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactivity disorder |
ORPHA:401777 |
Metachromatic Leukodystrophy, Adult Form |
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Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili... |
ORPHA:309271 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Frequent temper tantrums, Abnormal repetitive mannerisms, Head-banging, Attention deficit hyperac... |
OMIM:619103 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
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Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
ORPHA:476126 |
3P25.3 Microdeletion Syndrome |
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Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Niemann-Pick Disease, Type C2 |
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Dementia, Abnormal repetitive mannerisms, Ataxia, Dysphagia |
OMIM:607625 |
X-Linked Intellectual Disability, Cantagrel Type |
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Abnormal repetitive mannerisms |
ORPHA:85277 |
Developmental And Epileptic Encephalopathy 66 |
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Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
Cystinosis |
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Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Gait disturbance, Delayed puberty... |
ORPHA:213 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Dementia... |
OMIM:234200 |
Bilateral Generalized Polymicrogyria |
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Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Broad-based gait, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Nmda Receptor Encephalitis |
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Short attention span, Confusion, Neoplasm of the thymus, Hypersexuality, Chorea, Depression, Chor... |
ORPHA:217253 |
Alazami Syndrome |
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Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Coffin-Siris Syndrome 7 |
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Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Abnormal repetitive mannerisms, Ataxia |
OMIM:619428 |
5Q14.3 Microdeletion Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:228384 |
Den Hoed-De Boer-Voisin Syndrome |
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Short attention span, Ataxia, Inability to walk, Agitation, Dysphagia, Abnormal repetitive manner... |
OMIM:619229 |
White-Sutton Syndrome |
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Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, A... |
OMIM:616364 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ... |
ORPHA:457279 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Positive Romberg sign, Nonprogressive cere... |
ORPHA:314647 |
Wiedemann-Steiner Syndrome |
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Psychomotor deterioration, Short attention span, Hyperactivity, Decreased response to growth horm... |
ORPHA:319182 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
4Q21 Microdeletion Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Diabetes mellitus, Abnormal repetitive mannerisms |
ORPHA:500159 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Inability to walk, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617802 |
Hyperthyroidism, Nonautoimmune |
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Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Increased circulatin... |
OMIM:609152 |
Phelan-Mcdermid Syndrome |
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Broad-based gait, Aggressive behavior, Impaired pain sensation, Unsteady gait, Tongue thrusting, ... |
OMIM:606232 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
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Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
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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Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:1001 |
Prader-Willi Syndrome Due To Translocation |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
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Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso... |
OMIM:619575 |
Trichotillomania |
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Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Chromosome 5P13 Duplication Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Macrocephaly-Developmental Delay Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia,... |
OMIM:620330 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... |
OMIM:619475 |
Van Esch-O'Driscoll Syndrome |
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Hypogonadotropic hypogonadism, Impulsivity, Shyness, Attention deficit hyperactivity disorder, Ab... |
OMIM:301030 |
Megalocornea-Intellectual Disability Syndrome |
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Hypothyroidism, Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc... |
ORPHA:805 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Impair... |
OMIM:619005 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Abnormal repetitive mannerisms |
ORPHA:529965 |
Joubert Syndrome 6 |
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Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Pilarowski-Bjornsson Syndrome |
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Abnormal repetitive mannerisms |
OMIM:617682 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Short attention span, Hyperactivity, Nail-biting, Pain insensitivity, Somatic sensory dysfunction... |
ORPHA:642 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level |
ORPHA:441 |
Congenital Disorder Of Glycosylation, Type Iia |
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Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica... |
OMIM:212066 |
Rauch-Steindl Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Microcephaly 29, Primary, Autosomal Recessive |
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Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Abnormal repetitive... |
ORPHA:522077 |
Mucopolysaccharidosis Type 2 |
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Short attention span, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, I... |
ORPHA:580 |
7Q11.23 Microduplication Syndrome |
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Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... |
ORPHA:96121 |
Hydroxykynureninuria |
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Abnormal repetitive mannerisms |
ORPHA:79155 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Abnormal repetitive mannerisms |
ORPHA:261144 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Precocious puberty, Short attention span, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:301066 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... |
OMIM:614756 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... |
OMIM:615873 |
Bainbridge-Ropers Syndrome |
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Precocious puberty, Inability to walk, Self-injurious behavior, Recurrent hand flapping, Abnormal... |
OMIM:615485 |
Kleefstra Syndrome 1 |
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Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:457351 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Abnormal repetitive mannerisms, Ataxia, Dysphagia |
ORPHA:496641 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Posterior pituitary hypoplasia, Gait disturbance, Abnormal repetitive mannerisms, Attention defic... |
ORPHA:464311 |
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 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Developmental And Epileptic Encephalopathy 2 |
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Inability to walk, Abnormal repetitive mannerisms |
OMIM:300672 |
White-Sutton Syndrome |
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Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... |
ORPHA:468678 |
Pitt-Hopkins Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Broad-based gait, Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, ... |
OMIM:617330 |
Kleefstra Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior |
ORPHA:261494 |
Developmental And Epileptic Encephalopathy 100 |
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Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619777 |
Monosomy 22Q13.3 |
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Impaired pain sensation, Hair-pulling, Hyperactivity, Bruxism |
ORPHA:48652 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Diabetes insipidus, Depression, Self-injurious behavior, Abnormal circulatin... |
ORPHA:534 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ... |
OMIM:619512 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Pineal cyst, Stereotypical body ro... |
ORPHA:513456 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Anterior pituitary hypoplasia, Gait disturbance |
ORPHA:464306 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
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 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
ORPHA:508533 |
Primrose Syndrome |
|
Restlessness, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Aggressive behavior, Hyp... |
OMIM:259050 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Abnormal repetitive mannerisms |
OMIM:301040 |
Norrie Disease |
|
Diabetes mellitus, Self-injurious behavior, Irritability, Attention deficit hyperactivity disorde... |
ORPHA:649 |
Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Difficulty walking |
OMIM:618653 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Precocious puberty, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Ogden Syndrome |
|
Irritability, Abnormal repetitive mannerisms, Maternal diabetes, Dysphagia |
OMIM:300855 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:468631 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Polyphagia, Self-injurious behavior, Gait disturbance, Hypogonadism, Dysphagia, A... |
ORPHA:1606 |
Arboleda-Tham Syndrome |
|
Abnormal repetitive mannerisms, Gait imbalance, Dysphagia |
OMIM:616268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:619522 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Abnormal repetitive mannerisms |
OMIM:301044 |
Coffin-Siris Syndrome 12 |
|
Hypothyroidism, Abnormal repetitive mannerisms |
OMIM:619325 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Abnormal repetitive mannerisms |
OMIM:194190 |
Lowe Oculocerebrorenal Syndrome |
|
Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Impaired pain sensation, Inability to walk, Bruxism, Impaired social in... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Abnormal repeti... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Impaired pain sensation, Inability to walk, Bruxism, Dysphagia, Abnormal repeti... |
ORPHA:261552 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea |
OMIM:616939 |