Neuropathy, Hereditary Sensory, Atypical |
|
Babinski sign, Ataxia, Sensory ataxia |
OMIM:256860 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity |
OMIM:300830 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Anxiety, Depression |
OMIM:614296 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Familial Alzheimer-Like Prion Disease |
|
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression |
ORPHA:280397 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Developmental And Epileptic Encephalopathy 56 |
|
Anxiety, Attention deficit hyperactivity disorder, Ataxia, Broad-based gait |
OMIM:617665 |
Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus... |
ORPHA:401901 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation |
OMIM:137580 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Gait ataxia |
OMIM:617769 |
Creutzfeldt-Jakob Disease |
|
Dementia, Myoclonus, Apathy, Extrapyramidal muscular rigidity, Hemiparesis, Irritability, Anxiety... |
OMIM:123400 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tre... |
OMIM:606438 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... |
OMIM:615362 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Huntington Disease-Like 1 |
|
Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Incoordination, Unsteady gait, Anxiet... |
OMIM:603218 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity diso... |
OMIM:619191 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Spinocerebellar Ataxia 12 |
|
Parkinsonism, Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokine... |
OMIM:604326 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Parkinsonism, Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffl... |
ORPHA:412066 |
Spinocerebellar Ataxia 48 |
|
Parkinsonism, Dystonia, Cachexia, Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Irritability,... |
OMIM:618093 |
Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior |
OMIM:619639 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... |
OMIM:616948 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Parkinsonism, Dementia, Chorea, Cognitive impairment, Apathy, Motor tics, Anxiety, Dep... |
OMIM:615483 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... |
OMIM:616053 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive cerebella... |
ORPHA:248111 |
Huntington Disease |
|
Clumsiness, Gait imbalance, Decreased body mass index, Apathy, Irritability, Anxiety, Gait distur... |
ORPHA:399 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Dementia, Rigidity, Dysmetria, Chorea, Aggressive behavior, Myoclonus, Frontal lobe dem... |
OMIM:607136 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor apraxia, Ataxia, Dysdiado... |
OMIM:617633 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:147630 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Trem... |
OMIM:615157 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Childhood Disintegrative Disorder |
|
Dementia, Motor deterioration, Social and occupational deterioration, Stereotypy, Mental deterior... |
ORPHA:168782 |
Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Anxiety, Oculogyric crisis, Abnormal social behavior, Lethargy, Gait ... |
ORPHA:255 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Dystonia, Inappropriate behavior, Short stature, Chorea, ... |
ORPHA:309246 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Myoclonus, Ataxia, Hypertonia, Oculomotor apraxia, Disinhibition, Ap... |
ORPHA:1020 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Spinocerebellar Ataxia 21 |
|
Postural tremor, Dystonia, Aggressive behavior, Cognitive impairment, Apathy, Abnormality of extr... |
OMIM:607454 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Parkinsonism, Dementia, Dysmetria, Bradykinesia, Intention tremor, Impaired tand... |
OMIM:300623 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Babinski sign, Dementia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesi... |
OMIM:606159 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Personality disorder |
ORPHA:2382 |
Gerstmann-Straussler Disease |
|
Dementia, Rigidity, Aggressive behavior, Weight loss, Myoclonus, Bradykinesia, Tremor, Emotional ... |
OMIM:137440 |
Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Postnatal growth retardat... |
ORPHA:391417 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Dentatorubral Pallidoluysian Atrophy |
|
Impaired proprioception, Involuntary movements, Dementia, Dyssynergia, Choreoathetosis, Dysmetria... |
ORPHA:101 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression |
OMIM:616398 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive i... |
ORPHA:96369 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... |
ORPHA:98818 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Aggressive behavior, Ataxia |
OMIM:612716 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:301013 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:411515 |
Obesity Due To Sim1 Deficiency |
|
Attention deficit hyperactivity disorder, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter |
OMIM:618718 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Dystonia, Babinski sign, Progressive psychomotor deterioration, Dementia, Frequent fa... |
ORPHA:309271 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... |
ORPHA:485350 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia |
ORPHA:500180 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Dystonia, Babinski sign, Progressive psychomotor deterioration, Frequent falls, Progr... |
ORPHA:309263 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Diabetes mellitus, Anx... |
ORPHA:449291 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Dystonia, Babinski sign, Frequent falls, Progressive gait ataxia, Decerebrate rigidit... |
ORPHA:309256 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperactivity, Ataxia, Gait ataxia, Hyperinsulinemia, Limb dystonia |
ORPHA:363400 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... |
ORPHA:1929 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Niemann-Pick Disease Type C |
|
Clumsiness, Cataplexy, Apathy, Progressive gait ataxia, Progressive neurologic deterioration, Abn... |
ORPHA:646 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia |
OMIM:614104 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... |
ORPHA:43 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... |
OMIM:103050 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia |
ORPHA:228402 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unsteady gait |
ORPHA:35069 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity |
OMIM:613684 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsi... |
OMIM:610217 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... |
ORPHA:1942 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Ataxia, Depression, Bipolar affective disorder |
OMIM:601853 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus |
OMIM:614613 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia |
OMIM:300354 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:610042 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... |
ORPHA:168491 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles |
ORPHA:166108 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Low self esteem, Punding, Abnormal social behavior, Anxiety, Attention deficit hy... |
ORPHA:64280 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity |
ORPHA:397973 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder, Hypoglycemia, Insulin resistance |
ORPHA:73272 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Anxiety, Aggressive behavior, Ataxia |
OMIM:618430 |
Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Dysmetria, Aggressive behavior, Intention tremor, Ataxia, Nonprogressive cerebellar ataxia, Abnor... |
ORPHA:314647 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self-mutilation, Head-banging |
OMIM:182290 |
Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... |
OMIM:123450 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance |
ORPHA:163681 |
Chromosome 10Q26 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:609625 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Gait imbalance, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait |
ORPHA:98794 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior |
OMIM:252920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia |
OMIM:300486 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter |
ORPHA:363686 |
13Q12.3 Microdeletion Syndrome |
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Hyperactivity, Self-mutilation |
ORPHA:412035 |
Glass Syndrome |
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Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Mend Syndrome |
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Hyperactivity |
OMIM:300960 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Hyperactivity |
OMIM:619239 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance |
OMIM:309520 |
47,Xyy Syndrome |
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Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
ORPHA:8 |
19P13.3 Microduplication Syndrome |
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Self-injurious behavior, Hyperactivity, Irritability |
ORPHA:447980 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Ataxia |
ORPHA:530983 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Angelman Syndrome |
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Happy demeanor, Self-injurious behavior, Aggressive behavior, Inappropriate laughter, Hyperactivi... |
ORPHA:72 |
Angelman Syndrome |
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Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Hyperactivity, Gait disturbance, Neonatal hypoglycemia |
ORPHA:457485 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
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Hyperactivity, Aggressive behavior, Shuffling gait, Low frustration tolerance |
OMIM:300534 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Mucopolysaccharidosis, Type Iiia |
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Hyperactivity |
OMIM:252900 |
Pediatric-Onset Graves Disease |
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Mood swings, Hyperactivity, Irritability |
ORPHA:525731 |
Citrullinemia Type Ii |
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Hyperactivity, Aggressive behavior, Irritability, Lethargy |
ORPHA:247585 |
Choreoacanthocytosis |
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Hair-pulling, Lingual dystonia, Self-injurious behavior, Loss of ambulation, Aggressive behavior,... |
ORPHA:2388 |
Argininemia |
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Hyperactivity, Spastic gait, Irritability |
OMIM:207800 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:300912 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Dystonia, Gait disturbance, Bradykinesia, Blepharospasm, Hyperactivity, Ataxia, Akinesia, Depression |
OMIM:234200 |
X-Linked Intellectual Disability, Cabezas Type |
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Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:85293 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Purine Nucleoside Phosphorylase Deficiency |
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Hyperactivity, Ataxia |
ORPHA:760 |
Joubert Syndrome 1 |
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Hyperactivity, Aggressive behavior, Self-mutilation, Ataxia |
OMIM:213300 |
Wiedemann-Steiner Syndrome |
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Hyperactivity, Anxiety, Aggressive behavior, Low frustration tolerance |
ORPHA:319182 |
Familial Gestational Hyperthyroidism |
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Hyperactivity |
ORPHA:99819 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity |
ORPHA:424 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, Attention defi... |
ORPHA:805 |
Legius Syndrome |
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Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Hair-pulling, Irritability |
ORPHA:447997 |
Early Infantile Epileptic Encephalopathy |
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Self-injurious behavior, Dystonia, Hyperactivity, Episodic ataxia |
ORPHA:1934 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... |
ORPHA:642 |
Acrodysostosis With Multiple Hormone Resistance |
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Hyperactivity, Diabetes mellitus |
ORPHA:280651 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
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Dystonia, Short stature, Self-injurious behavior, Chorea, Stereotypy, Eyelid myoclonus, Spasticit... |
ORPHA:178469 |
Mental Retardation, Autosomal Dominant 54 |
|
Inability to walk |
OMIM:617799 |