Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn... |
OMIM:614063 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Impaired social interactions, Aggressive behavior |
OMIM:618103 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Tremor, Depression, Inappropriate behavior, Cognitive impairment, Dystonia, Memory impair... |
ORPHA:401901 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Frontotemporal dementia, Irritability, Disinhibition, Inappropria... |
OMIM:172700 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitiv... |
OMIM:619150 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe... |
OMIM:617820 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Hereditary Geniospasm |
|
Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal soci... |
ORPHA:391417 |
Foxg1 Syndrome |
|
Dystonia, Inability to walk, Choreoathetosis, Impaired social interactions, Bruxism, Difficulty w... |
ORPHA:561854 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... |
ORPHA:98807 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions |
OMIM:611092 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... |
ORPHA:444002 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Shyness, Overweight, Difficulty walking, Dystonia, Abnormal repetitive mannerisms |
ORPHA:280763 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions |
ORPHA:397933 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Dysmetria, Depressio... |
OMIM:615157 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking |
OMIM:617393 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Attention deficit hyperactivity disorder, Ataxia, Impaired social interactions, Intention tremor |
ORPHA:137831 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho... |
ORPHA:208513 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... |
OMIM:612069 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Tremor, Inability to walk, Tongue thrusting, Gait ataxia, Pill-ro... |
ORPHA:3095 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Dystonia, Impulsivity, Tremor, Depression, Bradykinesia, Fro... |
ORPHA:2828 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi... |
OMIM:619738 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Bruxism, Bradykinesia, Agitation, Dysphagia, Abnormal repetitive... |
OMIM:617435 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,... |
OMIM:614104 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... |
OMIM:617695 |
Christianson Syndrome |
|
Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repe... |
ORPHA:85278 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Failure to thrive, Abnorm... |
ORPHA:927 |
Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv... |
OMIM:618218 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Bradykinesia, Attention deficit hyperactivity disorder, Dystonia, Abnorma... |
OMIM:619725 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Dystonia, Ataxia, Impulsivity, Inability to... |
OMIM:617854 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... |
OMIM:619580 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self... |
ORPHA:449291 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Gait disturbance, Impaired social interactions, Recurre... |
ORPHA:544254 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal... |
OMIM:618917 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Dysphagia, Failure to thrive, Abnormal repetitive man... |
DECIPHER:45 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o... |
ORPHA:79264 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... |
OMIM:618342 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... |
ORPHA:98794 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Progr... |
ORPHA:309271 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... |
ORPHA:309263 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Broad-based gait, Dystonia, Aggressive behavior, Gait disturbance, Attention deficit hyperactivit... |
OMIM:300352 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... |
ORPHA:352490 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Depression, Blepharospasm, Li... |
ORPHA:93958 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight |
OMIM:618347 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... |
ORPHA:168491 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal emotion, Impaired social interactions, Att... |
ORPHA:1942 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Inability to walk, Irritability, Failure to t... |
OMIM:617864 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Rett Syndrome |
|
Inability to walk, Bradykinesia, Gait disturbance, Agitation, Difficulty walking, Dystonia, Failu... |
ORPHA:778 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms |
OMIM:619317 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Depression, Cognitive impairment, Attention deficit hyperactivity disorder, ... |
ORPHA:98784 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dystonia, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Impaired social int... |
ORPHA:261197 |
X-Linked Intellectual Disability, Van Esch Type |
|
Attention deficit hyperactivity disorder, Failure to thrive, Impaired social interactions |
ORPHA:163976 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Difficulty w... |
OMIM:123450 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Compulsive b... |
OMIM:615656 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Abnormal repetitive mannerisms, Ataxia, Gait ataxia |
OMIM:619092 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Failure to thrive, Ataxia |
OMIM:616881 |
48,Xxyy Syndrome |
|
Ataxia, Tremor, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitiv... |
ORPHA:10 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attent... |
OMIM:300986 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... |
ORPHA:309256 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... |
OMIM:300912 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Motor deterioration, Ster... |
OMIM:312750 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Tongue thrusting, Irritability, Athetosis, Impaired social interactions, Bruxism, Abnor... |
OMIM:613454 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Ataxia, Repetitive compulsive behavior, Inability to walk, Dysphagia, Depression, Hostility, Brux... |
OMIM:300260 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... |
OMIM:617600 |
48,Xxxy Syndrome |
|
Tremor, Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior... |
ORPHA:96263 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... |
ORPHA:314647 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Niemann-Pick Disease Type C |
|
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive... |
ORPHA:646 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repe... |
OMIM:618004 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Abnormal repetitive mannerisms |
OMIM:617807 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe... |
OMIM:600430 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... |
OMIM:607485 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... |
ORPHA:845 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... |
OMIM:619121 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Torticollis, Inability to walk, Delayed early-childhood soc... |
ORPHA:300570 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... |
OMIM:618430 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gait imbalance, Attention deficit hype... |
OMIM:619312 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... |
OMIM:610883 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:613443 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire... |
OMIM:612469 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit... |
ORPHA:208447 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dyston... |
ORPHA:2388 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... |
OMIM:619293 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... |
OMIM:618205 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr... |
OMIM:617796 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Fg Syndrome Type 1 |
|
Broad-based gait, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social... |
ORPHA:93932 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
ORPHA:411986 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:619877 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... |
ORPHA:476126 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Irritability, Self-injurious behavior... |
OMIM:616364 |
Den Hoed-De Boer-Voisin Syndrome |
|
Short attention span, Ataxia, Overweight, Inability to walk, Tremor, Obesity, Agitation, Dysphagi... |
OMIM:619229 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Head tremor |
OMIM:619428 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention ... |
OMIM:617061 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity, Self-injurious behavior, Gait disturbance, Attention defic... |
ORPHA:819 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... |
OMIM:300486 |
4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619435 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem... |
OMIM:619475 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Tongue thrusting, Unsteady gait, Impaired social interacti... |
OMIM:606232 |
Prader-Willi Syndrome Due To Translocation |
|
Obesity, Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Impaired s... |
ORPHA:177907 |
Cystinosis |
|
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms, Gait disturbance |
ORPHA:213 |
Nmda Receptor Encephalitis |
|
Short attention span, Confusion, Oculogyric crisis, Hypersexuality, Depression, Choreoathetosis, ... |
ORPHA:217253 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Dysphagia, Dementia, Dystonia, Abnormal repetitive mannerisms |
OMIM:607625 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be... |
OMIM:613174 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617802 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Shyness, Obesity, Self-injurious behavior, Self-mu... |
ORPHA:293948 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ... |
ORPHA:457279 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
3P25.3 Microdeletion Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Sandhoff Disease |
|
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia |
OMIM:268800 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil... |
OMIM:212066 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Overweight, Head-banging, Self-injurious behavior, Attention deficit hypera... |
OMIM:619575 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat... |
ORPHA:319182 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Failure to thrive, Cognitive impairment, Dysphagia |
OMIM:617527 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... |
ORPHA:96121 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... |
ORPHA:1001 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Limb dystonia |
ORPHA:457351 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms |
ORPHA:500159 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Mend Syndrome |
|
Failure to thrive, Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Dystonia, Abnormal repetiti... |
ORPHA:522077 |
Bainbridge-Ropers Syndrome |
|
Inability to walk, Self-injurious behavior, Recurrent hand flapping, Failure to thrive, Abnormal ... |
OMIM:615485 |
Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Failure to thrive |
OMIM:615574 |
Van Esch-O'Driscoll Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness |
OMIM:301030 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Obesity, Irritability, Truncal... |
OMIM:615873 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia |
ORPHA:496641 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Failure to thrive, Dystonia |
ORPHA:521426 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:300672 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder, Decrea... |
OMIM:619005 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor... |
ORPHA:468678 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Gait disturbance, Attention deficit hyperactivity disorder, Failure to... |
ORPHA:464311 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363958 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Kleefstra Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil... |
ORPHA:261494 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... |
OMIM:620330 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... |
OMIM:614756 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Mucopolysaccharidosis Type 2 |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Progressive neurologic det... |
ORPHA:580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Short attention span, Abnormal repetitive mannerisms, Obesity, Aggressive behavior |
OMIM:301066 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Trichothiodystrophy |
|
Reduced social reciprocity, Intention tremor, Gait ataxia |
ORPHA:33364 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Small for gestational age, Gait disturbance, Failure to thrive, Abnormal repetitiv... |
ORPHA:464306 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:447997 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Broad-based gait, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, Abnormal repetitive ... |
OMIM:617330 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Opisthotonus |
ORPHA:508533 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Failure t... |
OMIM:619512 |
Developmental And Epileptic Encephalopathy 100 |
|
Gait ataxia, Abnormal repetitive mannerisms, Choreoathetosis, Dysphagia |
OMIM:619777 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353277 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur... |
ORPHA:513456 |
Williams Syndrome |
|
Ataxia, Failure to thrive in infancy, Tremor, Obesity, Dysmetria, Depression, Gait disturbance, G... |
ORPHA:904 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Obesity, Difficulty walking |
OMIM:618653 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Kinsship Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... |
ORPHA:534 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:468631 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Abnormal repetitive mannerisms |
OMIM:301040 |
Arboleda-Tham Syndrome |
|
Dystonia, Abnormal repetitive mannerisms, Gait imbalance, Dysphagia |
OMIM:616268 |
1P36 Deletion Syndrome |
|
Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Dysphagia, Failure to thrive, Abn... |
ORPHA:1606 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp... |
ORPHA:438213 |
Norrie Disease |
|
Cachexia, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Failur... |
ORPHA:649 |
Ogden Syndrome |
|
Irritability, Torticollis, Abnormal repetitive mannerisms, Dysphagia |
OMIM:300855 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small for gestational age, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Self-injurious behavior, Truncal obesity, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:612474 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent... |
OMIM:259050 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:194190 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Inability to walk, Bruxism, Impaired social interactions, Dysphagia, De... |
ORPHA:2152 |
Coffin-Siris Syndrome 12 |
|
Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619325 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Abnormal repetitive mannerisms |
OMIM:301044 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Failure to thrive, Abnormal repetitive m... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Failure to thrive, Abnormal repetitive m... |
ORPHA:261552 |