Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Hypertonia, Aggressive behavior, Spasticity, Impaired social interactions, Slurred speech |
OMIM:618103 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Depression, Attention deficit hyperactivity disorder |
OMIM:613003 |
Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Attention deficit hyperactivity disorder, Aggressive behavior, Motor tics |
OMIM:300830 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Gilles De La Tourette Syndrome |
|
Self-mutilation, Phonic tics, Attention deficit hyperactivity disorder, Aggressive behavior, Moto... |
OMIM:137580 |
Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Impaired social interactions |
OMIM:606053 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety, Chorea |
OMIM:118700 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Gait ataxia, Aggressive behavior |
OMIM:618221 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior |
OMIM:617270 |
Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Emotional blunting, Disinhibition, Inappropriate laughter, Diminished m... |
OMIM:172700 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Chorea, T... |
ORPHA:401901 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... |
ORPHA:397933 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Obsessive-Compulsive Disorder |
|
Depression, Anxiety, Skin-picking |
OMIM:164230 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Stereotypical body rocking, Poor coordination, Recurrent hand flappin... |
OMIM:309548 |
Geniospasm 1 |
|
Chin myoclonus, Anxiety |
OMIM:190100 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... |
ORPHA:66624 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... |
ORPHA:36899 |
Fraxe Intellectual Disability |
|
Clumsiness, Impulsivity, Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Aggr... |
ORPHA:100973 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Myoclonus, Anxiety, Difficulty walking, Attention deficit hyperact... |
OMIM:619191 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Unsteady gait, Self-mutilation |
OMIM:614063 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Involuntary movements, Spasticity, I... |
OMIM:617820 |
Dystonia 11, Myoclonic |
|
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor |
OMIM:159900 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Falls, Chorea, Aggressive behavior, Inappropriate la... |
OMIM:619150 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Inappropriate behavior, Gait disturbanc... |
ORPHA:275864 |
Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordination |
OMIM:603218 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics |
OMIM:615483 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Parkinsonism with favorable response to dopaminergic medication, Anxiety, Chorea |
ORPHA:494541 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Anxiety, Poor eye contact |
OMIM:619651 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Gait distur... |
OMIM:600795 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Lower limb spasticity, Anxiety, Attention deficit hyperactivity disorder, Bradykinesia |
OMIM:618878 |
Dystonia 12 |
|
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... |
OMIM:128235 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis |
OMIM:619470 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability |
OMIM:612069 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Difficulty walking, Spasticity, Irritability |
OMIM:617393 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... |
OMIM:619725 |
Huntington Disease-Like 2 |
|
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Irritability |
OMIM:606438 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea |
OMIM:618760 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Poor eye contact |
OMIM:613886 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608049 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... |
OMIM:604326 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... |
OMIM:619738 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Attention deficit hyperactivi... |
OMIM:613670 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia |
OMIM:615282 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity |
OMIM:605909 |
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome |
|
Clumsiness, Poor eye contact, Gait ataxia, Involuntary movements, Aggressive behavior, Emotional ... |
ORPHA:468620 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Shuffling gait, Inert... |
ORPHA:412066 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Anxiety, Motor stereotypy, Impaired social interactions |
ORPHA:168782 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... |
ORPHA:3077 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior |
OMIM:609425 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Hyperactivity, Tremor, Spasticity, ... |
OMIM:618718 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia |
OMIM:618906 |
Atypical Rett Syndrome |
|
Poor eye contact, Inappropriate crying, Hand apraxia, Pill-rolling tremor, Panic attack, Stereoty... |
ORPHA:3095 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... |
ORPHA:96369 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... |
OMIM:618218 |
Developmental And Epileptic Encephalopathy 15 |
|
Poor eye contact, Irritability |
OMIM:615006 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Impaired social interactions, No social interaction, Aggressive behavior |
ORPHA:329249 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Hyperactivity, Impulsivity, Depression, Chorea, Spasticity |
ORPHA:88616 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Abnormal social behavior, Depression, Poor coordination, Anxiety, Panic attack, Park... |
ORPHA:255 |
Foxg1 Syndrome |
|
Motor stereotypy, Poor eye contact, Inappropriate crying, Myoclonus, Hyperkinetic movements, Ster... |
ORPHA:561854 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Depression, Anxiety, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia,... |
OMIM:618093 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... |
OMIM:618917 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity, Irritability |
ORPHA:500545 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Overfriendliness, Aggressive behavior |
OMIM:618010 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Tremor, Choreoathetosis |
ORPHA:391417 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Hyperactivity, Aggressive behavior |
OMIM:615541 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... |
OMIM:606324 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Poor eye contact, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal |
OMIM:615032 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Motor stereotypy, Limb ataxia, Poor ... |
OMIM:617695 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Hyperactivity, Cerebral palsy, Anxiety, Myoclonus, Cho... |
OMIM:617600 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Hyperactivity, Self-mutilation, Aggressive behavior, Unsteady gait |
OMIM:615516 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability |
OMIM:619717 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, Punding |
ORPHA:64280 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Hypertonia, Ataxia, Abnormal social behavior, Myoclonus, Parkinsonism, Disinhibition, Apraxia, Oc... |
ORPHA:1020 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Poor eye contact, Aggressive behavior, Emotional lability |
OMIM:615828 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Cdkl5-Deficiency Disorder |
|
Inappropriate laughter, Poor eye contact, Stereotypical hand wringing |
ORPHA:505652 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Self-injurious behavior |
OMIM:619690 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Shyness, Spa... |
ORPHA:280763 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Anxiety, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Motor stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:617044 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Impulsivity, Recurrent hand flapping... |
OMIM:619580 |
Developmental And Epileptic Encephalopathy 67 |
|
Poor eye contact, Athetosis |
OMIM:618141 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Depression,... |
ORPHA:449291 |
Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, Aggressive behavior, Spasticity, Impaired social interactions |
OMIM:610042 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Inability to walk, Depression, Anxiety, Progressive spasticity, Gait ataxia |
DECIPHER:45 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Motor stereotypy, Depression, Anxiety, Suicidal ideation, Involuntary movements, Attention defici... |
ORPHA:98784 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... |
ORPHA:457240 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Happy demeanor, Ataxia, Hyperactivity, Stereotypical hand wringing, Incoordinat... |
OMIM:614104 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Depression, Myoclonus, Anxiety |
OMIM:616398 |
Unilateral Focal Polymicrogyria |
|
Poor fine motor coordination, Spastic hemiparesis, Abnormal nonverbal communicative behavior, Hem... |
ORPHA:268947 |
Perry Syndrome |
|
Akinesia, Apathy, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidi... |
OMIM:168605 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Depression, Anxie... |
ORPHA:79264 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... |
OMIM:619317 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Inappropriate laughter, Recurrent hand flapping, Spasticity |
OMIM:618859 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Hyperactivity, Cerebral palsy, Attention deficit hyperactivity diso... |
ORPHA:352490 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:618504 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
OMIM:615637 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia |
OMIM:619092 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Agg... |
ORPHA:313892 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Abnormal social behavior, Intention tremor, Decerebrate rigidity, Babinski sign, Freq... |
ORPHA:309263 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... |
ORPHA:3198 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:301029 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Happy demeanor, Poor eye contact, Gait ataxia, Spasticity |
OMIM:617807 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Speech apraxia, Motor stereotypy, Unsteady gait |
OMIM:618205 |
Fragile X Syndrome |
|
Poor eye contact, Recurrent hand flapping, Self-biting |
OMIM:300624 |
Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Poor eye contact, Inappropriate crying, Chorea, Athetosis, Tongue thrusting, Sp... |
OMIM:613454 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Ataxia, Inability to walk, Hyperactivity, Cortical myoclonus, Myoclonus, Anxiet... |
ORPHA:168491 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent falls, Gait a... |
ORPHA:309256 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Impaired social interactions |
ORPHA:544254 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, Hyperactivity, Tremor, Attention deficit hyperactivity disorder, Aggressive beh... |
OMIM:618342 |
2Q23.1 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter |
ORPHA:228402 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Conspicuously happy disposition, Hypertonia, Ataxia, Motor stereotypy, Self-injurious behavior, R... |
OMIM:300986 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Recurrent hand flapping |
OMIM:620021 |
Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Upper motor neuron dysfunction, Abnormal social behavior |
ORPHA:530983 |
Christianson Syndrome |
|
Conspicuously happy disposition, Motor stereotypy, Truncal ataxia, Gait ataxia, Inappropriate lau... |
ORPHA:85278 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Abnormal social behavior, Depression, Intention tremor, Decerebrate rigidity, Babinsk... |
ORPHA:309271 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Poor eye contact, Depression, Anxiety, Rigidity, Chorea, Hostility, Pro... |
OMIM:300260 |
Tonne-Kalscheuer Syndrome |
|
Self-injurious behavior, Anxiety, Tremor, Shyness, Aggressive behavior, Spasticity |
OMIM:300978 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apathy, Parkinsonism, Hypersexuality, Disinhibition, Repetitive compulsive behavior, Apraxia |
OMIM:607485 |
Young-Onset Parkinson Disease |
|
Apathy, Impulsivity, Bradykinesia, Depression, Anxiety, Panic attack, Rigidity, Tremor, Spasticit... |
ORPHA:2828 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Anxiety, Abnormal pyramidal... |
ORPHA:309246 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618825 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Hand-leading gestures, Tics, Aggressive behavior, Recurrent hand flapping |
OMIM:617788 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Tics |
OMIM:617808 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... |
OMIM:619121 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Myoclonus, Poor eye contact |
ORPHA:411986 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Hyperactivity, Recurrent hand flapping,... |
ORPHA:98794 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Self-injurious behavior, Recurrent hand flapping |
OMIM:617268 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Poor eye contact, Self-mutilation, Cerebral palsy, Stereotypical hand wringing, Low frust... |
ORPHA:163681 |
Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Poor eye contact, Stereotypical body rocking, Depression, Anxiety, Self-biting, Aggr... |
ORPHA:293939 |
Macrocephaly-Developmental Delay Syndrome |
|
Motor stereotypy, Anxiety, Self-injurious behavior |
ORPHA:397612 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Recurrent hand flapping, Tongue thrusti... |
ORPHA:411511 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Recurrent hand flapping |
OMIM:613192 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, No social interaction, Head tremor |
OMIM:619428 |
48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor, Attention deficit hyperactivity disorder |
ORPHA:10 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Ataxia, Anxiety, Paraplegia, Emotional lability |
ORPHA:927 |
Alazami Syndrome |
|
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation |
ORPHA:319671 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotypical body rocking, ... |
OMIM:300912 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... |
OMIM:608643 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Aggressive be... |
OMIM:618914 |
Cri-Du-Chat Syndrome |
|
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Self-mutilation,... |
OMIM:123450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Hyperactivity, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance |
OMIM:300486 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Self-injurious behavior, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia... |
ORPHA:208447 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk |
OMIM:619877 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Anxiety, Oromotor apraxia, Attention deficit hyperactivity disorder, Spasticity, Repetitive compu... |
ORPHA:391372 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Head-banging, Hyperactivity, Self-mutilation |
OMIM:182290 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Attention deficit h... |
OMIM:619680 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Hyperactivity, Hair-pulling, Myoclonic spasms, Clonus, Lower limb s... |
ORPHA:447997 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Tremor, Self-injurious behavior |
ORPHA:238750 |
Rett Syndrome |
|
Motor stereotypy, Inability to walk, Bradykinesia, Stereotypical hand wringing, Gait disturbance,... |
ORPHA:778 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Hypertonia, Motor stereotypy, Gait disturbance, Speech apraxia, Attention defic... |
OMIM:300352 |
Galloway-Mowat Syndrome 6 |
|
Motor stereotypy, Paroxysmal bursts of laughter |
OMIM:618347 |
Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Tongue thrusting, Inappropriate crying |
ORPHA:77299 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling |
OMIM:616393 |
Choreoacanthocytosis |
|
Falls, Chorea, Emotional lability, Slurred speech, Hypertonia, Loss of ambulation, Hyperactivity,... |
ORPHA:2388 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Overfriendliness, Incoordination, Motor stereotypy, Gait ataxia |
OMIM:616579 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Self-injurious behavior, Chorea, Spasticity, Eyelid myoclonus |
ORPHA:178469 |
Luscan-Lumish Syndrome |
|
Slurred speech, Shyness, Anxiety, Aggressive behavior |
OMIM:616831 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... |
ORPHA:522077 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Poor eye contact |
OMIM:610883 |
Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior |
OMIM:619435 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder |
ORPHA:1727 |
Niemann-Pick Disease Type C |
|
Apathy, Ataxia, Cataplexy, Upper motor neuron dysfunction, Clumsiness, Abnormal social behavior, ... |
ORPHA:646 |
Angelman Syndrome |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Hyperactivity, Self-injurious behavi... |
ORPHA:72 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Motor stereotypy, Anxiety, Hyperactivity, Irritability |
OMIM:617796 |
Radio-Tartaglia Syndrome |
|
Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Tremor, Aggressive behavior |
OMIM:619312 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Anxiety, Tremor, Abnormal aggressive, impulsive or violent behavior, Ir... |
ORPHA:96263 |
Developmental And Epileptic Encephalopathy 87 |
|
Hypertonia, Recurrent hand flapping |
OMIM:618916 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Motor stereotypy, Low frustration tolerance |
OMIM:619293 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Motor stereotypy, Spastic diplegia, Delayed social development, Spasticity, Spastic ... |
ORPHA:300570 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Self-injurious behavior, Tremor, Attention deficit hyperactivity disorder, Aggr... |
OMIM:617061 |
Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus, Stereotypical hand wringing |
ORPHA:289266 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Motor stereotypy, Hyperactivity |
OMIM:617751 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Motor stereotypy |
OMIM:616351 |
Rauch-Steindl Syndrome |
|
Motor stereotypy, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619695 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Motor stereotypy, Speech apraxia, Choreoathetosis, Paroxysmal dyskinesia, Impaired social interac... |
ORPHA:261197 |
Nmda Receptor Encephalitis |
|
Motor stereotypy, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rigidity, ... |
ORPHA:217253 |
Transketolase Deficiency |
|
Motor stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder |
ORPHA:488618 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Ataxia, Spastic paraparesis, Aggressive behavior, Incoordination |
ORPHA:369891 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Gait disturbance, Attention deficit hyperacti... |
ORPHA:819 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Limb hypertonia, Spasticity |
ORPHA:457351 |
White-Sutton Syndrome |
|
Overfriendliness, Motor stereotypy, Self-injurious behavior, Anxiety, Tics, Aggressive behavior, ... |
OMIM:616364 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Motor stereotypy, Self-mutilation, Tremor, Gait ataxia, Attention deficit hyperactivity disorder,... |
ORPHA:476126 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Hyperactivity |
OMIM:618027 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Shyness |
OMIM:300801 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Hypertonia, Stereotypical hand wringing |
OMIM:619854 |
Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy, Myoclonus, Poor eye contact |
OMIM:300672 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Anxiety, Aggressive b... |
OMIM:156200 |
5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Abnormal pyramidal sign, Nonprogre... |
ORPHA:314647 |
Rett Syndrome |
|
Gait apraxia, Stereotypical hand wringing, Truncal ataxia, Gait ataxia, Spasticity |
OMIM:312750 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Head-banging, Attention deficit hyperactivity disorder |
OMIM:619103 |
Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Poor eye contact, Tongue thrusting, Aggressive behavior, Impaired social intera... |
OMIM:606232 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy, Speech apraxia |
ORPHA:529965 |
Leber Congenital Amaurosis 8 |
|
Eye poking |
OMIM:613835 |
Joubert Syndrome 6 |
|
Motor stereotypy, Oculomotor apraxia, Ataxia |
OMIM:610688 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Inability to walk |
OMIM:617802 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance |
ORPHA:457279 |
X-Linked Intellectual Disability, Cilliers Type |
|
Shyness |
ORPHA:163971 |
49,Xxxxy Syndrome |
|
Overfriendliness, Tremor, Shyness, Irritability, Low frustration tolerance |
ORPHA:96264 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Attention deficit hyperactivity disorder, Spasticity, Repetitive compulsive behavior |
ORPHA:401777 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Gait imbalance, Broad-based gait, Tongue thrusting |
ORPHA:98795 |
Cystinosis |
|
Gait disturbance, Abnormal pyramidal sign, Motor stereotypy |
ORPHA:213 |
Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Hyperactivity |
OMIM:615873 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Motor stereotypy, Hypertonia, Self-mutilation, Aggressive behavior, Unsteady gait |
OMIM:212066 |
Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Stereotypical hand wringing, Tremor, Spas... |
OMIM:619229 |
Kleefstra Syndrome 1 |
|
Motor stereotypy, Apathy, Aggressive behavior |
OMIM:610253 |
1P21.3 Microdeletion Syndrome |
|
Shyness, Self-injurious behavior, Aggressive behavior, Self-mutilation |
ORPHA:293948 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia |
ORPHA:79155 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Babinski sign, Spasticity, Inappropriate laughter |
OMIM:615802 |
3P25.3 Microdeletion Syndrome |
|
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ataxia, Isometric tremor, Falls, Tics, Spasticity, Emotional lability, Broad-based gait, Hyperton... |
OMIM:619475 |
Van Esch-O'Driscoll Syndrome |
|
Motor stereotypy, Impulsivity, Poor eye contact, Unilateral vocal cord paralysis, Shyness, Spasti... |
OMIM:301030 |
Prader-Willi Syndrome Due To Translocation |
|
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Impaired socia... |
ORPHA:177907 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia |
ORPHA:496641 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy |
ORPHA:500159 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:613174 |
D-Glyceric Aciduria |
|
Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia |
OMIM:220120 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Stereotypical body rocking, Inappropriate crying, Tongue ... |
ORPHA:261323 |
Bainbridge-Ropers Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Self-injurious behavior, Recurrent hand flapping |
OMIM:615485 |
White-Sutton Syndrome |
|
Motor stereotypy, Self-injurious behavior, Hyperactivity, Aggressive behavior, Incoordination |
ORPHA:468678 |
Bainbridge-Ropers Syndrome |
|
Hypertonia, Inability to walk, Recurrent hand flapping |
ORPHA:352577 |
Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Hyperactivity, Anxiety, Aggressive behavior, Low frustration tolerance |
ORPHA:319182 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Hypertonia, Irritability, Abnormal social beh... |
ORPHA:1675 |
Tuberous Sclerosis Complex |
|
Impulsivity, Self-injurious behavior, Abnormal social behavior, Depression, Anxiety, Aggressive b... |
ORPHA:805 |
Leber Congenital Amaurosis 9 |
|
Eye poking |
OMIM:608553 |
7Q11.23 Microduplication Syndrome |
|
Motor stereotypy, Self-injurious behavior, Dysmetria, Anxiety, Aggressive behavior, Impaired soci... |
ORPHA:96121 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
ORPHA:1001 |
Kleefstra Syndrome |
|
Motor stereotypy, Self-injurious behavior, Aggressive behavior, Self-mutilation |
ORPHA:261494 |
Pitt-Hopkins Syndrome |
|
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior |
OMIM:610954 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, Ataxia |
ORPHA:2479 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Motor stereotypy, Self-injurious behavior, Head-banging, Attention deficit hyperactivity disorder |
OMIM:619575 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Ataxia, Poor gross motor coordination, Hyperactivity, Dysmetr... |
OMIM:614756 |
Niemann-Pick Disease, Type C2 |
|
Motor stereotypy, Ataxia, Spasticity, Cataplexy |
OMIM:607625 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal nonverbal communicative behavior, Spasticity |
ORPHA:485421 |
Dilated Cardiomyopathy With Ataxia |
|
Action tremor, Ataxia, Lower limb spasticity, Repetitive compulsive behavior |
ORPHA:66634 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy |
ORPHA:261144 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Self-mutilation |
OMIM:619005 |
Fg Syndrome Type 1 |
|
Abnormal social behavior |
ORPHA:93932 |
Pyruvate Carboxylase Deficiency |
|
Apathy, Ataxia, Poor eye contact, Recurrent hand flapping, Abnormal pyramidal sign, Tremor |
ORPHA:3008 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Motor stereotypy, Hypertonia, No social interaction, Opisthotonus |
ORPHA:508533 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gait disturbance, Anxiety, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:464311 |
Mend Syndrome |
|
Limb hypertonia, Aggressive behavior, Abnormal social behavior |
ORPHA:401973 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Hyperactivity |
OMIM:619512 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Abnormal pyramidal sign, Hyperkinetic move... |
ORPHA:468631 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Gait disturbance, Anxiety, Hyperactivity, Motor stereotypy |
ORPHA:464306 |
Developmental And Epileptic Encephalopathy 100 |
|
Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia |
OMIM:619777 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injuriou... |
ORPHA:353281 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Stereotypical hand wringing |
OMIM:619179 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad-based gait, Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia |
OMIM:617330 |
Trichothiodystrophy |
|
Hypertonia, Impaired social reciprocity, Intention tremor, Paraplegia/paraparesis, Abnormal pyram... |
ORPHA:33364 |
Dpagt1-Cdg |
|
Hypertonia, Akinesia, Ataxia, Inability to walk, Head-banging, Stereotypical body rocking, Emotio... |
ORPHA:86309 |
Koolen-De Vries Syndrome |
|
Overfriendliness |
ORPHA:96169 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Ataxia, Impulsivity, Tip-toe gait, Self-mutilation, Spastic diplegia, Limb hypertonia, Cerebral p... |
OMIM:619950 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Stereotypical hand wringing |
OMIM:612337 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Overfriendliness, Abnormal social behavior, Anxiety, Speech apraxia, Inappropriate laughter |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Overfriendliness, Abnormal social behavior, Anxiety, Speech apraxia, Inappropriate laughter |
ORPHA:363958 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Motor stereotypy, Aggressive behavior |
OMIM:301066 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Aggressive behavior, Tongue thrusting, Hemiparesis |
ORPHA:369950 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Motor stereotypy, Spasticity |
OMIM:301040 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy, Unsteady gait |
OMIM:616682 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Motor stereotypy, Stereotypical body rocking, Gait ataxia, Repetitive compulsiv... |
ORPHA:513456 |
Mucopolysaccharidosis Type 2 |
|
Impulsivity, Motor stereotypy, Hyperactivity, Aggressive behavior |
ORPHA:580 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Spastic tetraparesis, Hypertonia, Motor stereotypy, Poor eye contact |
OMIM:301044 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypertonia, Tongue thrusting, Oculomotor apraxia |
OMIM:115150 |
Oculocerebrorenal Syndrome Of Lowe |
|
Motor stereotypy, Self-injurious behavior, Depression, Anxiety, Attention deficit hyperactivity d... |
ORPHA:534 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Motor stereotypy |
OMIM:619297 |
Orofaciodigital Syndrome V |
|
Overfriendliness |
OMIM:174300 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injuriou... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Self-injuriou... |
ORPHA:353277 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ataxia, Pseudobulbar paralysis, Intention tremor, Anxiety, Speech apraxia, Shyness, Aggressive be... |
ORPHA:466791 |
Norrie Disease |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Anxiety, Attention deficit hyperactivity d... |
ORPHA:649 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Motor stereotypy, Spastic diplegia, Hyperactivity, Poor coordination |
OMIM:309590 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Hypertonia, Ataxia, Anxiety, Stereotypical hand wringing, Gait disturbance, Agg... |
ORPHA:268261 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy, Difficulty walking |
OMIM:618653 |
Williams Syndrome |
|
Overfriendliness, Ataxia, Dysmetria, Abnormal social behavior, Depression, Anxiety, Tremor, Invol... |
ORPHA:904 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Motor stereotypy, Irritability |
OMIM:300855 |
Arboleda-Tham Syndrome |
|
Gait imbalance, Motor stereotypy, Lower limb hypertonia |
OMIM:616268 |
Mgat2-Cdg |
|
Stereotypical hand wringing |
ORPHA:79329 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy |
ORPHA:508498 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling |
ORPHA:48652 |
1P36 Deletion Syndrome |
|
Gait disturbance, Motor stereotypy, Self-injurious behavior, Hemiplegia/hemiparesis |
ORPHA:1606 |
Lowe Oculocerebrorenal Syndrome |
|
Motor stereotypy, Aggressive behavior |
OMIM:309000 |
Primrose Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disor... |
OMIM:259050 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development |
ORPHA:99413 |
Turner Syndrome |
|
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development |
ORPHA:881 |
Mosaic Monosomy X |
|
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development |
ORPHA:99228 |
Monosomy X |
|
Depression, Anxiety, Abnormal nonverbal communicative behavior, Delayed social development |
ORPHA:99226 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Inability to walk, Exaggerated startle response, Myoclonus, Stereotypical hand ... |
ORPHA:438213 |
Coffin-Siris Syndrome 12 |
|
Motor stereotypy |
OMIM:619325 |
Mowat-Wilson Syndrome |
|
Motor stereotypy, Happy demeanor, Ataxia, Anxiety, Spasticity, Impaired social interactions |
ORPHA:2152 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Impulsivity, Tip-toe gait, Stereotypical body rocking, Falls, Low frustration t... |
OMIM:619503 |
Wolf-Hirschhorn Syndrome |
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Motor stereotypy |
OMIM:194190 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Happy demeanor, Motor stereotypy, Inability to walk, Poor fine motor coordinati... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Happy demeanor, Motor stereotypy, Inability to walk, Poor fine motor coordinati... |
ORPHA:261552 |