Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivi... |
ORPHA:468726 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Delayed speech and language development, Anxiety |
OMIM:614346 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics |
OMIM:300830 |
Obsessive-Compulsive Disorder |
|
Collectionism, Skin-picking, Depression, Anxiety |
OMIM:164230 |
Intellectual Developmental Disorder, X-Linked 63 |
|
Delayed speech and language development, Anxiety |
OMIM:300387 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Echolalia, Phonic tics, Motor tics, Self-mutilation |
OMIM:137580 |
Familial Alzheimer-Like Prion Disease |
|
Depression, Attention deficit hyperactivity disorder, Emotional lability, Anxiety |
ORPHA:280397 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Bruxism |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Bruxism |
ORPHA:356996 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Recurrent hand flapping, Agitation, Compulsive behaviors, Imp... |
ORPHA:100973 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Recurrent hand flapping, Agitation, Impulsivity, Stereotypica... |
OMIM:309548 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Tics, Emotional lability, Impulsiv... |
ORPHA:66624 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions, Inappropriate... |
ORPHA:397933 |
Dystonia 11, Myoclonic |
|
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism |
OMIM:159900 |
Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Aggressive behavior, Emotional blunting, Apathy, Gait disturbance, Abnorm... |
ORPHA:275864 |
Myoclonus-Dystonia Syndrome |
|
Compulsive behaviors, Panic attack, Depression, Anxiety, Personality disorder |
ORPHA:36899 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depression, Anxiety |
OMIM:619191 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Impaired social interactions, Abnormal repetitive mannerisms, A... |
ORPHA:168782 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Depression, Anxiety, Motor tics, Athetosis |
OMIM:615483 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Delayed speech and language development, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Shyness, Suicidal ideation, Lack of peer... |
ORPHA:96369 |
Foxg1 Syndrome |
|
Paroxysmal bursts of laughter, Impaired social interactions, Stereotypical hand wringing, Inappro... |
ORPHA:561854 |
Cdkl5-Deficiency Disorder |
|
Inappropriate laughter, Reduced eye contact, Bruxism, Stereotypical hand wringing |
ORPHA:505652 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Aggressive behavior, Echolalia, Delayed speech and language development, Recurrent hand flapping,... |
OMIM:615516 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Delayed speech and language development, Recurrent hand flapping, Inappropriate laughter |
OMIM:618859 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aggressive behavior, Self-injurious behavior, Shyness, Impaired social interactions, Delayed spee... |
ORPHA:449291 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pronoun reversal, Echolalia, Delayed speech and language development, Recurrent hand flapping, An... |
OMIM:615032 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Delayed speech and language development, ... |
OMIM:618718 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Suicidal ideation, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depr... |
ORPHA:98784 |
2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Ataxia, Abnormal repetitiv... |
ORPHA:228402 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Abnormal r... |
ORPHA:313892 |
Macrocephaly-Developmental Delay Syndrome |
|
Delayed speech and language development, Self-injurious behavior, Abnormal repetitive mannerisms,... |
ORPHA:397612 |
Childhood Absence Epilepsy |
|
Punding, Abnormal social behavior, Low self esteem, Depression, Anxiety |
ORPHA:64280 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Depression, Anxiety, Sel... |
ORPHA:457240 |
Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Abnormal repetitive mannerisms, Inappropriate laughter, Conspicuousl... |
ORPHA:85278 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:85277 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behavio... |
ORPHA:352490 |
Atypical Rett Syndrome |
|
Gait ataxia, Inability to walk, Stereotypical hand wringing, Inappropriate crying, Gait disturban... |
ORPHA:3095 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms, Shyness |
ORPHA:280763 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Aggressive behavior, Echolalia, Self-biting, Severe receptive language delay, Abnormal repetitive... |
ORPHA:3306 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Delayed speech and language development, Aggressive behavior, Irritability, Abnormal repetitive m... |
ORPHA:391307 |
Alazami Syndrome |
|
Stereotypical hand wringing, Abnormal repetitive mannerisms, Anxiety, Abnormal eating behavior, S... |
ORPHA:319671 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Emotional lability, Loss of ambulation, Depression, Anxiety, Dysp... |
ORPHA:79264 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Recurrent hand flapping, Happy demeanor, Ataxia, Inappropriate laughter, Tongue t... |
ORPHA:411511 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Aggressive behavior, Inability to walk, Gait disturbance, Ataxia, Abnormal repetit... |
ORPHA:168491 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Hypersexuality, Apathy, Repetitive compulsive behavior, Agitation, Polyphagia, Disinhibition |
OMIM:607485 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Inappropriate crying, Recurrent hand flapping, Gait disturbance, Agitation, Bruxism |
OMIM:617903 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Abnormal repetitive mannerisms, Echolalia, Emotional lability, Anxiety |
ORPHA:927 |
5Q14.3 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms |
ORPHA:228384 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Pica, Tics, Happy demeanor, Ataxia, Tongue thrusting, Stereotypical body rocking, ... |
OMIM:617865 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Aggressive behavior, Delayed speech and language development, Recurrent hand flapping, Tics, Abse... |
OMIM:617788 |
Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Gait ataxia, Paroxysmal bursts of laughter, Aggressive behavior, Inability to walk, Recurrent han... |
OMIM:619580 |
Lamb-Shaffer Syndrome |
|
Delayed speech and language development, Abnormal social behavior, Abnormal repetitive mannerisms |
ORPHA:530983 |
4Q21 Microdeletion Syndrome |
|
Delayed speech and language development, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Anxiety, Delayed speech and language development, Repetitive compulsive behavior, Speech articula... |
ORPHA:391372 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder, Depression, Anx... |
ORPHA:10 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder, Anxiety |
OMIM:617600 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Reduced eye contact, Abnormal repetitive mannerisms |
ORPHA:411986 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, Recurrent hand flapping, Happy demeanor, Ataxia, Inappropriate lau... |
ORPHA:98794 |
22Q11.2 Duplication Syndrome |
|
Delayed speech and language development, Compulsive behaviors, Abnormal repetitive mannerisms, An... |
ORPHA:1727 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Transketolase Deficiency |
|
Self-injurious behavior, Delayed speech and language development, Abnormal repetitive mannerisms,... |
ORPHA:488618 |
Distal Xq28 Microduplication Syndrome |
|
Aggressive behavior, Tip-toe gait, Self-biting, Impulsivity, Attention deficit hyperactivity diso... |
ORPHA:293939 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Absent speech, Bruxism |
OMIM:616393 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Hostility, Inability to walk, Anxiety, Repetitive compulsive behavior, Ataxia, Depression, Dyspha... |
OMIM:300260 |
Rett Syndrome |
|
Inability to walk, Stereotypical hand wringing, Gait disturbance, Agitation, Abnormal repetitive ... |
ORPHA:778 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Severe receptive language delay, Absent speech, Abnormal repetitive mann... |
ORPHA:457351 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Impaired social interactions, Delayed speech and language development, Moderate receptive languag... |
ORPHA:261197 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Gait disturbance, Abnormal repetitive mannerisms, Attention deficit hype... |
ORPHA:819 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:500159 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Aggressive behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Attention... |
ORPHA:476126 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Abnormal repetitive mannerisms, Dysphagia, Irritability |
ORPHA:447997 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:261144 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Delayed speech and language development, Absent speech, Abnormal repetitive ... |
ORPHA:457279 |
Rett Syndrome, Congenital Variant |
|
Impaired social interactions, Inappropriate crying, Absent speech, Tongue thrusting, Irritability... |
OMIM:613454 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Absent speech, Compulsive behaviors |
ORPHA:401777 |
Choreoacanthocytosis |
|
Hyperactivity, Aggressive behavior, Head-banging, Falls, Anxiety, Self-injurious behavior, Hair-p... |
ORPHA:2388 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Impaired social interactions, Abnormal repetitive mannerisms, Emotional lability, Delayed social ... |
ORPHA:300570 |
Cystinosis |
|
Abnormal repetitive mannerisms, Gait disturbance, Polydipsia |
ORPHA:213 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Impaired social interactions, Delayed speech and language development, Happy demean... |
ORPHA:177907 |
White-Sutton Syndrome |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Absent spe... |
ORPHA:468678 |
3P25.3 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech |
ORPHA:435638 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Self-biting, Repetitive compulsive behavior, Absent speech, Abnormal repetitive mannerisms, Self-... |
ORPHA:522077 |
Kleefstra Syndrome |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Abnormal r... |
ORPHA:261494 |
2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Anxiety, Dysphagia, Low frust... |
ORPHA:319182 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal repetitive mannerisms, Dysm... |
ORPHA:96121 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:496641 |
Nmda Receptor Encephalitis |
|
Hypersexuality, Abnormal repetitive mannerisms, Depression, Anxiety, Language impairment, No soci... |
ORPHA:217253 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Self-injurious behavior, Impaired so... |
ORPHA:353281 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Absent speech, Anxiety |
ORPHA:464311 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Repetitive compulsive behavior, Impu... |
ORPHA:805 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, No social interaction, Absent speech |
ORPHA:508533 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tip-toe gait, Falls, Suicidal ideation, Tics, Repetitive comp... |
OMIM:619475 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Gait disturbance, Abnormal repetitive mannerisms, Anxiety |
ORPHA:464306 |
Dilated Cardiomyopathy With Ataxia |
|
Repetitive compulsive behavior, Ataxia |
ORPHA:66634 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Delayed speech and language development, Repetitive compulsive behavior, Abnormal repetitive mann... |
ORPHA:513456 |
Monosomy 22Q13.3 |
|
Delayed speech and language development, Hair-pulling, Bruxism |
ORPHA:48652 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Self-injurious behavior, Impaired so... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Self-injurious behavior, Impaired so... |
ORPHA:353277 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:468631 |
Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit ... |
ORPHA:534 |
Mucopolysaccharidosis Type 2 |
|
Impulsivity, Aggressive behavior, Hyperactivity, Abnormal repetitive mannerisms |
ORPHA:580 |
1P36 Deletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Self-injurious behavior,... |
ORPHA:1606 |
Norrie Disease |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:649 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Mowat-Wilson Syndrome |
|
Inability to walk, Anxiety, Happy demeanor, Ataxia, Abnormal repetitive mannerisms, Dysphagia, Br... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Happy demeanor, Abnormal repetitive mannerisms, Absent speech, Expressive language delay, Bruxism |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Happy demeanor, Abnormal repetitive mannerisms, Absent speech, Expressive language delay, Bruxism |
ORPHA:261552 |