Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, EEG abnormality, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder |
OMIM:617665 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity |
OMIM:300830 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Familial Alzheimer-Like Prion Disease |
|
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression |
ORPHA:280397 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
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 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Bradykinesia, Decreased amplitude of sensory action po... |
OMIM:619279 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... |
OMIM:301008 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression |
OMIM:159900 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
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 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, EEG abnormality |
ORPHA:436151 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Gilles De La Tourette Syndrome |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation |
OMIM:137580 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking |
OMIM:619191 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Focal EEG discharges with secondary ... |
ORPHA:3077 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Huntington Disease-Like 2 |
|
Dystonia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression |
OMIM:606438 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality |
OMIM:239500 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Bradykinesia, Resting tremor, Anxiety, Depression |
OMIM:605909 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Landau-Kleffner Syndrome |
|
EEG with temporal focal spikes, Steppage gait, Aggressive behavior, EEG with generalized epilepti... |
ORPHA:98818 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, EEG with focal sharp slow waves, Hyperactivity, Personality disorder,... |
ORPHA:2382 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Dystonia, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... |
ORPHA:52368 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Aggressive behavior, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia |
OMIM:300983 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:248510 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Aggressive behavior, Tremor, Hyperactivity, Broad-based gait |
OMIM:619470 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Prominent ear helix, Impulsivity |
ORPHA:100973 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... |
OMIM:125250 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... |
OMIM:601455 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, EEG with generalized slow activity, Multifocal epileptiform disch... |
ORPHA:228360 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, H... |
ORPHA:88616 |
Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Tremor, Ataxia, Emotio... |
ORPHA:206443 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking |
ORPHA:3198 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Bradykinesia, Resting tremor, Anxiety, Blepharospasm, Leg dystonia |
OMIM:606324 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... |
ORPHA:248111 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk,... |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Macrotia, Posteriorly rotated ears, Hyperactivity, Anxiety, Gait ataxia |
OMIM:609425 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia |
OMIM:612716 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy, Macrotia |
OMIM:300928 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Tremor |
OMIM:615924 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior, Macrotia |
OMIM:615541 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality |
OMIM:617519 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Optic nerve hypoplasia, Ataxia, Emotional lability, Attention deficit hyperactivity di... |
OMIM:614306 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Abnormality of superior crus of antihelix, Aggressive behavior, Macrotia, Hyperactivity, Prominen... |
OMIM:301013 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... |
OMIM:601596 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, EEG abnormality, Broad-based gait |
ORPHA:411515 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, EEG abnormality, Anxiety |
OMIM:271980 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression |
OMIM:616398 |
Rasmussen Subacute Encephalitis |
|
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... |
ORPHA:1929 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Exaggerated startle res... |
ORPHA:309246 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... |
ORPHA:1942 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, EEG abnormality, Impulsivity, Ga... |
ORPHA:500180 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Posteriorly rotated ears |
OMIM:617773 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Hyperactivity, Aggressive behavior |
OMIM:618342 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, EEG w... |
ORPHA:485350 |
Optic Atrophy 11 |
|
Optic atrophy, Facial diplegia, Dysmetria, Macrotia, Hearing impairment, Hyperactivity, Ataxia |
OMIM:617302 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... |
ORPHA:1215 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment |
ORPHA:457260 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... |
ORPHA:99027 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... |
ORPHA:96369 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Increased theta frequency activity in EEG, Paroxysmal dystonia, Interictal epileptiform activity,... |
ORPHA:98784 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity |
ORPHA:101039 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, EEG with series of focal spikes, EEG with photoparoxysmal response, Aggressive ... |
ORPHA:168491 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Charcot-Marie-Tooth Disease Type 1F |
|
Steppage gait, Hand tremor, Optic nerve hypoplasia, Head tremor, Absent brainstem auditory respon... |
ORPHA:101085 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears |
ORPHA:251383 |
Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears |
OMIM:300831 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Interictal epileptiform activity, Aggressive behavior, EEG with generalized epilept... |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior, Macrotia |
OMIM:300558 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Uplifted earlobe, Impulsivity |
OMIM:300143 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment |
ORPHA:369939 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Emotional labi... |
OMIM:610217 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Impulsivity... |
ORPHA:35069 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Emotional lability, Irritabili... |
OMIM:608643 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Stiff-Person Syndrome |
|
Opisthotonus, Agoraphobia, Exaggerated startle response, Anxiety, Depression |
OMIM:184850 |
Adult Krabbe Disease |
|
Gait disturbance, Ataxia, EEG abnormality, Broad-based gait, Prolonged brainstem auditory evoked ... |
ORPHA:206448 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Large earlobe, EEG with multifocal slow activity, Aggressive behavior, Hyperactivity, Thickened h... |
OMIM:616809 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality |
OMIM:610042 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Happy demeanor, Macrotia, Abnormality of the pinna, Inappropriate laughter, Hyp... |
OMIM:614104 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment |
OMIM:300958 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Inappropriate laughter, Tremor, Hyperactivity, Ataxia, EEG abnorm... |
ORPHA:98794 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
X-Linked Adrenoleukodystrophy |
|
Progressive hearing impairment, Gait disturbance, Aggressive behavior, Inappropriate sexual behav... |
ORPHA:43 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... |
ORPHA:909 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Opisthotonus, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... |
OMIM:103050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Aggressive behavior, Abnormality of the pinna, Tremor, Hyperactivity, Gait ataxia |
OMIM:300354 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Low-set, posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Hyperactivity, Hypsarrhythmia |
OMIM:619239 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Macrotia, Posteriorly rotated ears, Hearing impairment |
OMIM:618027 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Optic atrophy, Optic disc pallor, Difficulty walking |
ORPHA:320406 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Ataxia |
OMIM:619260 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia |
OMIM:618504 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Aganglionic megacolon, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Infantile Krabbe Disease |
|
Optic atrophy, Inappropriate crying, Opisthotonus, Decreased nerve conduction velocity, Hearing i... |
ORPHA:206436 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Macrotia, Hyperactivity, Irritability, Anxiety, Att... |
ORPHA:449291 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia |
ORPHA:363400 |
Chromosome 2Q37 Deletion Syndrome |
|
Sensorineural hearing impairment, Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:600430 |
Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Self-mutilation, Hearing impairment, Hyperactivity, ... |
OMIM:182290 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response |
OMIM:272750 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity, Posterior helix pit |
OMIM:613684 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Macrotia |
ORPHA:391307 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Depression, Bipolar aff... |
OMIM:601853 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Gait disturbance, Macrotia, Absent brainstem auditory responses, Hearing impairmen... |
ORPHA:90321 |
Angelman Syndrome |
|
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, EEG abnormali... |
OMIM:105830 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response, Ataxia, Broad-based gait, Anxiety |
ORPHA:438216 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia |
ORPHA:228402 |
Tay-Sachs Disease |
|
Apathy, Exaggerated startle response |
OMIM:272800 |
Cri-Du-Chat Syndrome |
|
Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Abnormality of the pinna, Se... |
OMIM:123450 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:609136 |
Tay-Sachs Disease |
|
Optic atrophy, Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Hearing impai... |
ORPHA:845 |
Angelman Syndrome |
|
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, I... |
ORPHA:72 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Chromosome 10Q26 Deletion Syndrome |
|
Aggressive behavior, Sensorineural hearing impairment, Hyperactivity, Broad-based gait, Protrudin... |
OMIM:609625 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Low-set, posteriorly rotated ears, Self-biting |
ORPHA:3306 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... |
OMIM:256800 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Anxiety |
OMIM:618430 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Hearing impairment |
OMIM:252920 |
Fragile X Syndrome |
|
Hyperactivity, Macrotia |
OMIM:300624 |
16P12.1P12.3 Triplication Syndrome |
|
Large earlobe, Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Na... |
ORPHA:485405 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Aggressive behavior, Macrotia, Hearing impairment, Multifocal epileptiform discharges, Hyperactiv... |
ORPHA:369891 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... |
ORPHA:73272 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Optic atrophy, Tremor, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Self-mutilation, Hearing impairment |
ORPHA:412035 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Microtia |
OMIM:618089 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Self-mutilation, Macrotia, Hyperactivity, Low frustration tolerance, Gait ataxia |
OMIM:300486 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia, Self-mutilation, Inappropriate laughter, Hyperactivity, Low frustration t... |
ORPHA:363686 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... |
ORPHA:2388 |
Cockayne Syndrome A |
|
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Abnormality of the pinna, D... |
OMIM:216400 |
X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal earlobe morphology, Aggressive behavior, Tremor, Hyperactivity, EEG abnormality, Broad-b... |
ORPHA:85293 |
Potocki-Lupski Syndrome |
|
Hyperactivity, EEG abnormality, Hearing impairment |
OMIM:610883 |
19P13.3 Microduplication Syndrome |
|
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Irritability, Microtia |
ORPHA:447980 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Ataxia |
ORPHA:530983 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Abnormally fol... |
OMIM:309520 |
Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials |
ORPHA:401973 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia, Hypsarrhythmia |
OMIM:615574 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Gait disturbance, Dystonia, Bradykinesia, Blepharospasm, Tremor, Hyperactivity, At... |
OMIM:234200 |
Mogs-Cdg |
|
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Dystonia |
ORPHA:79330 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... |
OMIM:133540 |
Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Hearing impairment |
OMIM:252900 |
Citrullinemia Type Ii |
|
Aggressive behavior, Tremor, Hyperactivity, Irritability, Lethargy |
ORPHA:247585 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Aggressive behavior, Shuffling gait, Macrotia, Hyperactivity, Low frustration tolerance, Protrudi... |
OMIM:300534 |
Trisomy 10P |
|
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... |
ORPHA:171929 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hyperactivity, Irritability, Tremor |
ORPHA:525731 |
Early Infantile Epileptic Encephalopathy |
|
Dystonia, Self-injurious behavior, Hypsarrhythmia, EEG with burst suppression, Hyperactivity, Tre... |
ORPHA:1934 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
ORPHA:8 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609727 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Macrotia, Hypsarrhythmia, Hyperactivity, Ataxia, Anxiety |
OMIM:300912 |
Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Dystonia, Low-set, posteriorly rotated ears, Hypsarrhythmia, Exaggerated startle r... |
ORPHA:521426 |
Sandhoff Disease |
|
Orthostatic hypotension, Ataxia, Exaggerated startle response |
OMIM:268800 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hearing impairment, Hyperactivity, Inability to walk, Ataxia, Diffic... |
ORPHA:139396 |
Hyperlysinemia |
|
Opisthotonus, Dysmetria, Tremor, Hyperactivity, Hypoplasia of the antihelix, Tip-toe gait, EEG wi... |
ORPHA:2203 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear |
OMIM:614756 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Long eyelashes, Exaggerated startle response |
OMIM:617301 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Hearing impairment |
OMIM:252930 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sensorineural hearing impairment, Hyperactivity, Ataxia |
ORPHA:760 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
White-Sutton Syndrome |
|
Optic atrophy, Self-injurious behavior, Aggressive behavior, Posteriorly rotated ears, Sensorineu... |
ORPHA:468678 |
7Q11.23 Microduplication Syndrome |
|
Large earlobe, Abnormal earlobe morphology, Self-injurious behavior, Dysmetria, Overfolded helix,... |
ORPHA:96121 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Hearing impairment, Irritability, Anxiety, Protruding ear, Intenti... |
OMIM:619475 |
Joubert Syndrome 1 |
|
Optic disc pallor, Aggressive behavior, Self-mutilation, Optic disc coloboma, Hyperactivity, Ataxia |
OMIM:213300 |
Brain-Lung-Thyroid Syndrome |
|
Dystonia, Falls, Intention tremor, Sensorineural hearing impairment, Hyperactivity, Ataxia |
ORPHA:209905 |
Gm1 Gangliosidosis Type 1 |
|
Hirsutism, Exaggerated startle response |
ORPHA:79255 |
Argininemia |
|
Hyperactivity, Spastic gait, Irritability |
OMIM:207800 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormality of the optic disc, Hearing impairment |
OMIM:617516 |
Mucopolysaccharidosis Type 3 |
|
Conductive hearing impairment, Optic atrophy, Gait disturbance, Loss of ambulation, Aggressive be... |
ORPHA:581 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Hirsutism, Exaggerated startle response |
OMIM:617527 |
Legius Syndrome |
|
Dystonia, Vestibular Schwannoma, Hearing impairment, Hyperactivity, Attention deficit hyperactivi... |
ORPHA:137605 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Hypsarrhythmia, Hyperactivity, Irritability, Protruding ear |
ORPHA:447997 |
Brooks-Wisniewski-Brown syndrome |
|
Optic atrophy, Posteriorly rotated ears, Hyperactivity, EEG abnormality, Cupped ear, Protruding ear |
OMIM:300612 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Self-mutilation, Abnormality of the autonom... |
ORPHA:642 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, Attention defi... |
ORPHA:805 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Conductive hearing impairment, Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injuriou... |
ORPHA:353281 |
Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Optic atrophy, Otosclerosis, Aggressive behavior, Decreased nerve ... |
ORPHA:580 |
Deafness, Autosomal Recessive 84B |
|
Hearing impairment |
OMIM:614944 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Conductive hearing impairment, Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injuriou... |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Conductive hearing impairment, Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injuriou... |
ORPHA:353284 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Posteriorly rotated ears, Exaggerated startle response, Microtia, Small earlobe, Attention defici... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Optic disc pallor, Exaggerated startle response, Inability to walk, Broad-based gait |
ORPHA:438213 |