Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Attention Deficit-Hyperactivity Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Hyperactivity, Decreased body weight |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
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Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy, At... |
OMIM:618709 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Pachygyria, Motor stereotypy, Inability to walk |
OMIM:606053 |
N-Acetylaspartate Deficiency |
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Broad-based gait, Self-mutilation, Decreased body weight, Truncal ataxia, Unsteady gait, Motor st... |
OMIM:614063 |
Chromosome 15Q11-Q13 Duplication Syndrome |
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Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
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Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
Asperger Syndrome, Susceptibility To, 1 |
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Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
Autism, Susceptibility To, X-Linked 3 |
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Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
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Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
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Dysphagia, Gait ataxia, Hyperactivity, Impulsivity |
OMIM:620448 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Autism |
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Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
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Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:607373 |
Intellectual Developmental Disorder, X-Linked 72 |
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Motor stereotypy, Hyperactivity |
OMIM:300271 |
Microcephaly, Seizures, And Developmental Delay |
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Simplified gyral pattern, Hyperactivity, Ataxia |
OMIM:613402 |
Stxbp1-Related Encephalopathy |
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Dysplastic corpus callosum, Hyperactivity, Inability to walk, Ataxia |
ORPHA:599373 |
Smith-Magenis syndrome |
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Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis |
OMIM:617270 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Falls, Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:619150 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Pontocerebellar Hypoplasia, Type 11 |
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Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, De... |
OMIM:617695 |
Fraxe Intellectual Disability |
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Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Chromosome 3Q29 Deletion Syndrome |
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Failure to thrive, Gait ataxia, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for g... |
OMIM:609425 |
Hyperprolinemia, Type I |
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Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia |
OMIM:239500 |
Glycine Encephalopathy 1 |
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Agenesis of corpus callosum, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Foxg1 Syndrome |
|
Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Decreased body weigh... |
ORPHA:561854 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
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Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Overweight, Motor ... |
OMIM:620065 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Aggressive behavior, Obesity, Hyperactivity, Ataxia |
OMIM:620270 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy |
OMIM:617862 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... |
OMIM:613670 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Broad-based gait, Aggressive behavior, Hyperactivity, Motor stereotypy, Simplified gyral pattern |
OMIM:619470 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
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Lissencephaly, Failure to thrive, Polymicrogyria, Self-mutilation, Abnormality of neuronal migrat... |
OMIM:604317 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Failure to thrive, Agenesis of corpus callosum |
OMIM:274270 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Agitation |
OMIM:617171 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Motor stereotypy |
OMIM:617830 |
Hartnup Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
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Self-injurious behavior, Motor stereotypy, Polymicrogyria |
OMIM:615282 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
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Self-injurious behavior, Motor stereotypy, Inability to walk |
OMIM:617820 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
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Aggressive behavior, Hyperactivity, Failure to thrive, Agenesis of corpus callosum |
OMIM:615286 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Chorea, Aggressive behavior, Hyperactivity, Ataxia, Athetosis |
ORPHA:382 |
Juvenile Huntington Disease |
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Broad-based gait, Chorea, Gait ataxia, Weight loss, Hyperactivity, Ataxia, Progressive cerebellar... |
ORPHA:248111 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity |
OMIM:618090 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Truncal obesity |
ORPHA:75858 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Gait disturban... |
OMIM:614104 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
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Difficulty walking, Motor stereotypy, Failure to thrive |
OMIM:617393 |
Baker-Gordon Syndrome |
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Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:618218 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Motor stereotypy, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition |
OMIM:612069 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com... |
OMIM:618917 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... |
OMIM:618718 |
Behavioral Variant Of Frontotemporal Dementia |
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Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc... |
ORPHA:275864 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy |
OMIM:618906 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor... |
OMIM:600795 |
Developmental And Epileptic Encephalopathy 109 |
|
Crouch gait, Gait ataxia, Hyperactivity, Failure to thrive |
OMIM:620145 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Impaired pain sensation, Inability to walk, Chorea, Gait ataxia, Aggressive behavior, Hyperactivi... |
ORPHA:500180 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Self-injurious behavior, Inappropriate behavior, Pachygyria, Aggressive behavior, Attention defic... |
OMIM:619827 |
Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Chorea, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity, ... |
OMIM:620445 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait |
OMIM:615516 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringing, Abnormality of n... |
ORPHA:163681 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy |
DECIPHER:45 |
Christianson Syndrome |
|
Inappropriate laughter, Gait ataxia, Motor stereotypy, Cachexia, Truncal ataxia, Dysphagia |
ORPHA:85278 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperac... |
OMIM:617600 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Motor stereotypy, Lateral ventricle dilatation |
OMIM:613443 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy... |
OMIM:301029 |
Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Chorea, Ataxia, Motor stereotypy, Choreoathetosis |
OMIM:619317 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Aggressive behavior, H... |
ORPHA:3077 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... |
ORPHA:228402 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Failure to thrive, Stereotypical body rocking, Unsteady gait, Tongue thrusting,... |
OMIM:617865 |
Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, ... |
OMIM:600430 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... |
OMIM:617044 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation |
OMIM:617435 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Bruxism, Decreased body weight, Aggressive behavior, Attention deficit hyperactivity disorder, Hy... |
OMIM:618342 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... |
OMIM:618825 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Lateral ventricle dilatation, Polymicrogyria, Hyperactivity, Motor stereotypy, Patent ductus arte... |
OMIM:617751 |
Smith-Magenis Syndrome |
|
Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Inc... |
OMIM:182290 |
Fg Syndrome 3 |
|
Hyperactivity, Agenesis of corpus callosum |
OMIM:300406 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Motor stereotypy, Gait ataxia, Impaired tactile sensation |
OMIM:619092 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Ritscher-Schinzel Syndrome 4 |
|
Chorea, Agenesis of corpus callosum, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor ste... |
OMIM:619435 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g... |
OMIM:619121 |
Radio-Tartaglia Syndrome |
|
Obesity, Gait imbalance, Agenesis of corpus callosum, Aggressive behavior, Attention deficit hype... |
OMIM:619312 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Failure to thrive, Recurrent hand flapping, Aggressive behavior, Attenti... |
OMIM:300986 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Motor stereotypy |
OMIM:619725 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Motor stereotypy, Lateral ventricle dilatation, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Focal polymicrogyria, Frequent temper tantrums, Dysplastic corpus callosum, Attenti... |
OMIM:619103 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:620292 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Inability to walk, Gait ataxia, Recurrent hand flapping, Aggressive behavior, Attention deficit h... |
OMIM:619580 |
Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia |
ORPHA:530983 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... |
OMIM:610042 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Obes... |
ORPHA:98794 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Agenesis of corpus callosum, Compulsive behaviors, Motor stereotypy, Sma... |
OMIM:613174 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608049 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity |
OMIM:301013 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Motor stereotypy, Simplified gyral pattern |
OMIM:619877 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Self-mutilation, Cachexia, Hyperactivity, Ataxia, Athetosis |
ORPHA:52503 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior, Motor stereotypy, Imp... |
OMIM:618914 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Inability to walk, Bruxism, Chorea, Decreased body weight, Repetitive compuls... |
OMIM:300260 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Failure to thrive, Agitation, Ataxia |
ORPHA:927 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, ... |
OMIM:620242 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Pachygyria, Motor stereotypy, Dysphagia, Abnormality of the anterior commissure |
ORPHA:572013 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereot... |
OMIM:300912 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Inability to walk, Agenesis ... |
ORPHA:300570 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Inability to walk, Obsessive-compulsive trait, Aggressive behavior, Gait disturbance, Hyperactivi... |
ORPHA:168491 |
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
Rett Syndrome |
|
Failure to thrive, Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, G... |
ORPHA:778 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Inappropriate laughter, Motor stereotypy, Failure to thrive, Agenesis of corpus callosum |
OMIM:615802 |
Brain-Lung-Thyroid Syndrome |
|
Falls, Failure to thrive, Chorea, Abnormal eating behavior, Agenesis of corpus callosum, Abnormal... |
ORPHA:209905 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy, Agenesis of corpus callosum |
ORPHA:261144 |
Rett Syndrome, Congenital Variant |
|
Bruxism, Chorea, Tongue thrusting, Pachygyria, Athetosis, Motor stereotypy, Simplified gyral pattern |
OMIM:613454 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lateral ventricle dilatation, Inability to walk, Obesity, Stereotypical hand wringing, Decreased ... |
OMIM:619229 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Lateral ventricle dilatation, Aggressive behavior, Ataxia, Unsteady gai... |
ORPHA:457279 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Broad-based gait, Motor stereotypy |
OMIM:616351 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Head-banging, Failure to thrive, Lateral ventricle dilatation, Frequent ... |
OMIM:619575 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ... |
ORPHA:449291 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Gait ataxia, Hyperactivity, Self-mutilation |
OMIM:300486 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Attention deficit hyperactivity disorder, Motor stereotypy, Choreoath... |
ORPHA:261197 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Failure to thrive, Aggressive behavior, Attention deficit hyperactivity disorde... |
OMIM:300352 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Gait ataxia, Self-mutilation, Aggressive behavior, Attention deficit hyperacti... |
ORPHA:476126 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Gait ataxia, Dysmetria, Hyperactivity, Dysphagia, Dysdiadochokinesis, Impulsivity |
OMIM:610217 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy |
OMIM:616393 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor st... |
ORPHA:488618 |
Joubert Syndrome 6 |
|
Motor stereotypy, Ataxia |
OMIM:610688 |
Choreoacanthocytosis |
|
Self-injurious behavior, Impaired vibratory sensation, Phonic tics, Head-banging, Lateral ventric... |
ORPHA:2388 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Hyperactivity, Ataxia |
OMIM:620047 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Hyperactivity, Agitation, Small for gestational age |
ORPHA:424 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Agitation |
ORPHA:99819 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Failure to thrive, Stereotypical body rocking, Gait ataxia, Repetitive compulsi... |
ORPHA:513456 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Gait ataxia, Dysmetria, Aggressive behavior, Attention deficit hyperactivity di... |
OMIM:614756 |