Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, EEG abnormality, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
EEG abnormality, Impaired ability to form peer relationships, Impaired use of nonverbal behaviors... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, EEG abnormality, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300425 |
Autism |
|
EEG abnormality, Impaired ability to form peer relationships, Impaired use of nonverbal behaviors... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Impaired ability to form peer relationships, Impaired use of nonverbal behaviors... |
OMIM:608636 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:608631 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Pachygyria, Impaired social interactions, Stereotypy |
OMIM:606053 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, EEG abnormality |
ORPHA:436151 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, EEG abnormality, Impaired use of nonverbal behaviors, Stereotypy |
OMIM:300495 |
Hereditary Geniospasm |
|
Abnormal social behavior, Chin myoclonus |
ORPHA:53372 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Impaired social interactions, Hyperkinetic movements |
ORPHA:397933 |
Autism, Susceptibility To, 3 |
|
EEG abnormality, Impaired ability to form peer relationships, Impaired use of nonverbal behaviors... |
OMIM:608049 |
Developmental And Epileptic Encephalopathy 58 |
|
Spastic diplegia, Hypsarrhythmia, Stereotypy |
OMIM:617830 |
Hsd10 Disease |
|
Rigidity, Choreoathetosis, Chronic lactic acidosis, Myoclonus, Tremor, Ataxia, Abnormal social be... |
ORPHA:391417 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Ataxia, Stereotypy |
OMIM:618709 |
Atypical Rett Syndrome |
|
Involuntary movements, Limb myoclonus, Tongue thrusting, Poor eye contact, Tremor, Stereotypical ... |
ORPHA:3095 |
Baker-Gordon Syndrome |
|
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements, EEG abnormality |
OMIM:618218 |
Foxg1 Syndrome |
|
Choreoathetosis, Myoclonus, Poor eye contact, Stereotypy, Pachygyria, Stereotypical hand wringing... |
ORPHA:561854 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform discharges, Hyp... |
ORPHA:88616 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Stereotypy |
OMIM:617787 |
Obesity, Hyperphagia, And Developmental Delay |
|
Poor eye contact, Stereotypy |
OMIM:613886 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia, EEG abnormality |
OMIM:619150 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Polymicrogyria, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Shyness, Spastic dysarthria, Stereotypy, Spasticity, Progressive spastic paraplegia |
ORPHA:280763 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy |
OMIM:300271 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
Hyperprolinemia, Type I |
|
Ataxia, EEG abnormality, Stereotypy |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Stereotypy |
OMIM:617393 |
Developmental And Epileptic Encephalopathy 30 |
|
Hypsarrhythmia, Stereotypy |
OMIM:616341 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Hypsarrhythmia, Spasticity |
ORPHA:500545 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Dopa-Responsive Dystonia |
|
Rigidity, Poor coordination, Abnormality of extrapyramidal motor function, Fatigable weakness, Tr... |
ORPHA:255 |
Smith-Magenis syndrome |
|
Stereotypy |
DECIPHER:8 |
Cdkl5-Deficiency Disorder |
|
Multifocal epileptiform discharges, Stereotypical hand wringing, Poor eye contact |
ORPHA:505652 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Spastic tetraparesis, Simplified gyral pattern, Stereotypy |
OMIM:619470 |
Pontocerebellar Hypoplasia, Type 11 |
|
Poor coordination, Poor eye contact, Stereotypy, Ataxia, Spasticity, Limb ataxia |
OMIM:617695 |
N-Acetylaspartate Deficiency |
|
Truncal ataxia, Stereotypy |
OMIM:614063 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Myoclonus, Hypsarrhythmia, Poor eye contact, Stereotypy, Multifocal epileptiform discharges |
ORPHA:411986 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with occipital epileptiform discharges, Poor eye contact, Hypsarrhythmia, Stereotypy, Ataxia,... |
OMIM:619428 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, Stereotypical hand wringing, EEG abnormality |
OMIM:618760 |
Developmental And Epileptic Encephalopathy 6B |
|
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Multifocal epileptiform discharges, Ataxia, Hyper... |
OMIM:619317 |
Pitt-Hopkins-Like Syndrome 1 |
|
Stereotypy, Ataxia, EEG abnormality, Spasticity, Impaired social interactions |
OMIM:610042 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Poor coordination |
OMIM:309548 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Poor coordination, Tremor, Ataxia, Impaired social interactions, Recurrent hand flapping |
ORPHA:544254 |
Fraxe Intellectual Disability |
|
Clumsiness, Stereotypical body rocking, Recurrent hand flapping |
ORPHA:100973 |
Rett Syndrome, Congenital Variant |
|
Athetosis, Chorea, Tongue thrusting, Poor eye contact, Simplified gyral pattern, Stereotypy, Pach... |
OMIM:613454 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Cerebral palsy, Interictal epileptiform activity, EEG with gen... |
ORPHA:163681 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Poor eye contact |
ORPHA:444002 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Stereotypy |
OMIM:613670 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, EEG abnormality, Spasticity, Stereotypy |
OMIM:618718 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Stereotypy |
OMIM:609425 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Ataxia, Upper motor neuron dysfunction, Stereotypy |
ORPHA:530983 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing, Hypsarrhythmia |
OMIM:616056 |
Childhood Disintegrative Disorder |
|
Impaired social interactions, Stereotypy |
ORPHA:168782 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, EEG with continuous slo... |
ORPHA:275864 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypertonia, Spasticity |
ORPHA:352490 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia |
OMIM:619092 |
Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Stereotypy |
OMIM:615541 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Gait ataxia, Poor eye contact, Spasticity, Stereotypy |
OMIM:617807 |
Potocki-Lupski Syndrome |
|
EEG abnormality, Poor eye contact, Stereotypy |
OMIM:610883 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with series of focal spikes, EEG with photoparoxysmal response, Myoclonus, Cortical myoclonus... |
ORPHA:168491 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Gait ataxia |
OMIM:618917 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonic spasms, Poor motor coordination, Stereotypy, Poor fine motor coordination, ... |
ORPHA:79264 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Stereotypy |
OMIM:612069 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
EEG with series of focal spikes, Choreoathetosis, Chorea, Poor eye contact, Stereotypy, Repetitiv... |
ORPHA:522077 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Myoclonus, Oculomotor apraxia, Hypertonia, Ataxia, Apraxia, Abnormal social behavior, Parkinsonism |
ORPHA:1020 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Recurrent hand flapping, EEG abnormality |
OMIM:617268 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Babinski sign, Frequent falls, Progressive gait ataxia, Decreased nerve conduction ve... |
ORPHA:309263 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Myoclonus, Rigidity, Stereotypy |
OMIM:600795 |
Developmental And Epileptic Encephalopathy 87 |
|
Recurrent hand flapping, Hypertonia, Hypsarrhythmia |
OMIM:618916 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Delayed social development, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomo... |
ORPHA:300570 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Babinski sign, Frequent falls, Progressive gait ataxia, Decreased nerve conduction ve... |
ORPHA:309256 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Poor eye contact, Stereotypy, Hypsarrhythmia, Stereotypical body rocking, ... |
OMIM:300912 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Poor eye contact, Stereotypy, Re... |
OMIM:300260 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, EEG with spike-wave complexes (2.5-3.5 Hz), Limb myoclonus, Punding |
ORPHA:64280 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Poor eye contact, Stereotypy, Recurrent hand flapping, Impaired social interactions |
ORPHA:449291 |
Developmental And Epileptic Encephalopathy 2 |
|
Myoclonus, Hypsarrhythmia, Poor eye contact, EEG with generalized slow activity, Stereotypy |
OMIM:300672 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Recurrent hand flapping, Spasticity |
OMIM:618859 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Babinski sign, Frequent falls, Chorea, Progressive gait ataxia, Decreased nerve condu... |
ORPHA:309271 |
Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Stereotypy |
ORPHA:85278 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Bilateral generalized polymicrogyria |
ORPHA:178469 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG with frontal sharp slow waves, Limb hypertonia, Poor eye contact, Hypsarrhythmia, Stereotypy,... |
ORPHA:457351 |
Radio-Tartaglia Syndrome |
|
Poor eye contact, Stereotypy, Tremor, Ataxia, Gray matter heterotopia |
OMIM:619312 |
Rett Syndrome |
|
Limb apraxia, Increased serum lactate, Bradykinesia, Stereotypy, Stereotypical hand wringing, EEG... |
ORPHA:778 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
EEG with multifocal slow activity, Hypertonia, Myoclonus, Stereotypical hand wringing |
ORPHA:289266 |
Bilateral Generalized Polymicrogyria |
|
Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity |
ORPHA:208447 |
Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Stereotypy |
OMIM:618205 |
Leber Congenital Amaurosis 2 |
|
Eye poking |
OMIM:204100 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Overfriendliness, Stereotypy |
OMIM:619293 |
Pick Disease Of Brain |
|
Stereotypy |
OMIM:172700 |
Mental Retardation, Autosomal Dominant 48 |
|
Polymicrogyria, Stereotypy |
OMIM:617751 |
Cri-Du-Chat Syndrome |
|
Overfriendliness, Hypertonia, Stereotypy |
OMIM:123450 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity, Stereotypy |
ORPHA:457240 |
Hydroxykynureninuria |
|
Metabolic acidosis, Renal tubular acidosis, Hypertonia, Stereotypy |
ORPHA:79155 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Gait ataxia, Stereotypy |
DECIPHER:45 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Oromotor apraxia, EEG abnormality, Spasticity |
ORPHA:391372 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Impaired social interactions |
ORPHA:261197 |
Leber Congenital Amaurosis 1 |
|
Eye poking |
OMIM:204000 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Mental Retardation, Autosomal Dominant 7 |
|
Stereotypical hand wringing, Ataxia, Incoordination, Stereotypy |
OMIM:614104 |
Smith-Magenis Syndrome |
|
EEG abnormality, Stereotypy |
OMIM:182290 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Involuntary movements, Increased theta frequency activity in EEG, Interictal epileptiform activit... |
ORPHA:98784 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Poor hand-eye coordination, Impaired social interactions, Spasticity, Stereotypy |
OMIM:300352 |
Kohlschutter-Tonz Syndrome-Like |
|
EEG with focal spike waves, Upper limb spasticity, Myoclonus, Lower limb spasticity, Hypsarrhythm... |
OMIM:619229 |
4Q21 Microdeletion Syndrome |
|
Tremor, Stereotypy |
ORPHA:238750 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Tetraparesis, Stereotypy |
ORPHA:85277 |
48,Xxyy Syndrome |
|
Tremor, Ataxia, Stereotypy |
ORPHA:10 |
Coffin-Siris Syndrome 6 |
|
Tics, Stereotypy |
OMIM:617808 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Stereotypy |
OMIM:618906 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy, Ataxia, Recurrent h... |
OMIM:619580 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Myoclonus, Tongue thrusting, Tremor, Ataxia, EEG abnormality, EEG with abnormally slow frequencie... |
ORPHA:98794 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Babinski sign, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Spastic gait, Spastic tetrapl... |
OMIM:619121 |
Macrocephaly-Developmental Delay Syndrome |
|
EEG with generalized slow activity, Stereotypy |
ORPHA:397612 |
Mental Retardation, Autosomal Dominant 40 |
|
Gait ataxia, Stereotypy |
OMIM:616579 |
Phelan-Mcdermid Syndrome |
|
Impaired social interactions, Tongue thrusting, Poor eye contact, Stereotypy |
OMIM:606232 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... |
OMIM:608643 |
Microphthalmia-Brain Atrophy Syndrome |
|
Tongue thrusting, Spasticity |
ORPHA:77299 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Paraplegia, Ataxia, Stereotypy |
ORPHA:927 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Polymicrogyria, Stereotypy |
ORPHA:500159 |
Shukla-Vernon Syndrome |
|
Stereotypy |
OMIM:301029 |
Angelman Syndrome |
|
Myoclonus, Tongue thrusting, Poor eye contact, Tremor, Ataxia, EEG abnormality, Recurrent hand fl... |
ORPHA:72 |
Distal Xq28 Microduplication Syndrome |
|
Stereotypical body rocking, Poor eye contact |
ORPHA:293939 |
2Q23.1 Microdeletion Syndrome |
|
Ataxia, Stereotypy |
ORPHA:228402 |
Alazami Syndrome |
|
Stereotypical hand wringing, Stereotypy |
ORPHA:319671 |
5Q14.3 Microdeletion Syndrome |
|
Stereotypy |
ORPHA:228384 |
Angelman Syndrome Due To A Point Mutation |
|
Ataxia, Recurrent hand flapping, Tongue thrusting, EEG abnormality |
ORPHA:411511 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Recurrent hand flapping, Hypertonia, Stereotypy |
OMIM:300986 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Stereotypy |
OMIM:617044 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Stereotypy |
ORPHA:3306 |
Pyruvate Carboxylase Deficiency |
|
Lactic acidosis, Poor eye contact, Increased serum lactate, Tremor, Ataxia, Metabolic acidosis, A... |
ORPHA:3008 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
EEG with focal epileptiform discharges, Tongue thrusting, EEG abnormality |
ORPHA:98795 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Stereotypy |
ORPHA:313892 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Stereotypy |
OMIM:618825 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, EEG abnormality, Stereotypy |
ORPHA:2479 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Hypertonia, Stereotypy |
OMIM:618914 |
Chromosome 5P13 Duplication Syndrome |
|
Stereotypy |
OMIM:613174 |
Smith-Magenis Syndrome |
|
EEG abnormality, Stereotypy |
ORPHA:819 |
Limbic Encephalitis With Nmda Receptor Antibodies |
|
Involuntary movements, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Stereotypy, EE... |
ORPHA:217253 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping |
OMIM:615516 |
Dilated Cardiomyopathy With Ataxia |
|
Increased serum lactate, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Action tr... |
ORPHA:66634 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Stereotypy |
OMIM:618504 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Stereotypy |
OMIM:616351 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Progressive spasticity, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spasticity |
ORPHA:496641 |
Ritscher-Schinzel Syndrome 4 |
|
Athetosis, Chorea, Ataxia, Stereotypy |
OMIM:619435 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Stereotypy |
ORPHA:391307 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal cortical gyration, Dysmetria, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia... |
ORPHA:314647 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Gait ataxia, Spasticity, Stereotypy |
OMIM:300486 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Stereotypy |
ORPHA:529965 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Spastic tetraparesis, Pachygyria, Stereotypical hand wringing, Simplified gyral pattern |
OMIM:619179 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Stereotypy |
ORPHA:435638 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Isometric tremor, Head titubation, Multifocal epileptiform discharges, Cerebral palsy, To... |
OMIM:619475 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Stereotypy |
OMIM:619103 |
7Q11.23 Microduplication Syndrome |
|
Dysmetria, Impaired social interactions, Simplified gyral pattern, Stereotypy |
ORPHA:96121 |
Cystinosis |
|
Abnormal pyramidal sign, Stereotypy |
ORPHA:213 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
No social interaction, Hypertonia, Opisthotonus, Stereotypy |
ORPHA:508533 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Stereotypy |
ORPHA:261144 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Spasticity |
ORPHA:401777 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Simplified gyral pattern, Stereotypy, Pachygyria, Hypertonia, Hyperk... |
ORPHA:468631 |
Helsmoortel-Van Der Aa Syndrome |
|
Stereotypy |
OMIM:615873 |
Niemann-Pick Disease Type C |
|
Clumsiness, Cataplexy, Frequent falls, Chorea, Myoclonus, Progressive gait ataxia, Speech apraxia... |
ORPHA:646 |
22Q11.2 Duplication Syndrome |
|
Stereotypy |
ORPHA:1727 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior, Hypertonia, EEG abnormality, Multifocal epileptiform discharges |
ORPHA:1675 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal social behavior, Impaired social interactions, Stereotypy |
ORPHA:177907 |
Bainbridge-Ropers Syndrome |
|
Recurrent hand flapping, Hypertonia, Stereotypy |
OMIM:615485 |
White-Sutton Syndrome |
|
Incoordination, EEG abnormality, Stereotypy |
ORPHA:468678 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Babinski sign, Hypertonia, Spasticity, Stereotypy |
OMIM:615802 |
48,Xxxy Syndrome |
|
Tremor, Abnormal social behavior |
ORPHA:96263 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Stereotypy |
ORPHA:457279 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Gait ataxia, Stereotypy |
ORPHA:476126 |
2Q37 Microdeletion Syndrome |
|
Stereotypy |
ORPHA:1001 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Hypertonia, Stereotypy |
OMIM:212066 |
Niemann-Pick Disease, Type C2 |
|
Stereotypy, Ataxia, Spasticity, Cataplexy |
OMIM:607625 |
Kleefstra Syndrome 1 |
|
Stereotypy |
OMIM:610253 |
Fg Syndrome Type 1 |
|
Abnormal social behavior |
ORPHA:93932 |
Bainbridge-Ropers Syndrome |
|
Recurrent hand flapping, Hypertonia |
ORPHA:352577 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Clonus, Myoclonic spasms, Lower limb spasticity, Hypsarrhythmia, Stereotypy, Hypertonia |
ORPHA:447997 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Poor eye contact, Hypsarrhythmia, Stereotypy, Spastic tetraparesis, Hypertonia, EEG abnormality |
OMIM:301044 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with occipital focal spikes, EEG with central focal spikes, EEG with parietal focal spikes, S... |
OMIM:301066 |
Kleefstra Syndrome |
|
Stereotypy |
ORPHA:261494 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Metabolic acidosis, Renal tubular acidosis, Stereotypy |
OMIM:619575 |
Ogden Syndrome |
|
Hypertonia, Stereotypy |
OMIM:300855 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
EEG abnormality, Stereotypy |
OMIM:619005 |
Mend Syndrome |
|
Abnormal social behavior, Abnormal auditory evoked potentials, Limb hypertonia |
ORPHA:401973 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Parkinsonism, Apraxia |
OMIM:607485 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Stereotypical body rocking, Tongue thrusting |
ORPHA:261323 |
Cardiofaciocutaneous Syndrome 1 |
|
Oculomotor apraxia, Hypertonia, Tongue thrusting |
OMIM:115150 |
Transketolase Deficiency |
|
Stereotypy |
ORPHA:488618 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Gait ataxia |
OMIM:617330 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
EEG with focal epileptiform discharges, Interictal epileptiform activity, Speech apraxia, EEG abn... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
EEG with focal epileptiform discharges, Interictal epileptiform activity, Speech apraxia, EEG abn... |
ORPHA:363958 |
Mgat2-Cdg |
|
Stereotypical hand wringing, Hypsarrhythmia |
ORPHA:79329 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Stereotypy |
ORPHA:464311 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Increased serum lactate, Proximal renal tubular acidosis, Stereotypy, EEG abnormality |
ORPHA:534 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Pachygyria, Gait ataxia |
ORPHA:513456 |
Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Stereotypy |
OMIM:619297 |
Choreoacanthocytosis |
|
Hair-pulling, Self-injurious behavior, Aggressive behavior, Self-mutilation of tongue and lips du... |
ORPHA:2388 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Stereotypy |
OMIM:619512 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Impaired social interactions, EEG abnormality, Stereotypy |
ORPHA:353281 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Stereotypy |
ORPHA:464306 |
Dpagt1-Cdg |
|
Hypsarrhythmia, EEG with generalized slow activity, Tremor, Stereotypical body rocking, Hypertoni... |
ORPHA:86309 |
Wiedemann-Steiner Syndrome |
|
Stereotypy |
ORPHA:319182 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Stereotypy |
ORPHA:508498 |
Arboleda-Tham Syndrome |
|
Lower limb hypertonia, Stereotypy |
OMIM:616268 |
Tuberous Sclerosis Complex |
|
Repetitive compulsive behavior, Abnormal social behavior |
ORPHA:805 |
Mucopolysaccharidosis Type 2 |
|
Decreased nerve conduction velocity, Stereotypy |
ORPHA:580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Poor coordination, Spastic diplegia, Stereotypy |
OMIM:309590 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Stereotypy |
OMIM:618653 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Impaired social interactions, EEG abnormality, Stereotypy |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Impaired social interactions, EEG abnormality, Stereotypy |
ORPHA:353277 |
1P36 Deletion Syndrome |
|
Hemiplegia/hemiparesis, EEG abnormality, Stereotypy |
ORPHA:1606 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Tongue thrusting, Hemiparesis |
ORPHA:369950 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Ataxia, Hypertonia, Stereotypical hand wringing |
ORPHA:268261 |
Mowat-Wilson Syndrome |
|
Periventricular heterotopia, EEG with generalized slow activity, Stereotypy, Ataxia, Polymicrogyr... |
ORPHA:2152 |
Williams Syndrome |
|
Involuntary movements, Dysmetria, Abnormality of extrapyramidal motor function, Tremor, Ataxia, S... |
ORPHA:904 |
Lowe Oculocerebrorenal Syndrome |
|
Renal Fanconi syndrome, Proximal renal tubular acidosis, Stereotypy |
OMIM:309000 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Stereotypy |
OMIM:616682 |
Wolf-Hirschhorn Syndrome |
|
EEG abnormality, Stereotypy |
OMIM:194190 |
Rubinstein-Taybi Syndrome 1 |
|
Poor coordination, EEG abnormality, Stereotypy |
OMIM:180849 |
Norrie Disease |
|
Clonus, Hypertonia, EEG abnormality, Stereotypy |
ORPHA:649 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Stereotypy |
OMIM:619522 |
Monosomy 22Q13.3 |
|
Hair-pulling |
ORPHA:48652 |
Coffin-Siris Syndrome 12 |
|
Stereotypy |
OMIM:619325 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Involuntary movements, Myoclonus, Stereotypical hand wringing, Exaggerated startle response |
ORPHA:438213 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, Stereotypy, Poor fine motor coordination, Polymicrogyria, Spasticity... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Periventricular heterotopia, Stereotypy, Poor fine motor coordination, Polymicrogyria, Spasticity... |
ORPHA:261552 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Stereotypical body rocking, EEG abnormality |
OMIM:619503 |
Primrose Syndrome |
|
Tics, Stereotypy |
OMIM:259050 |