Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Familial Alzheimer-Like Prion Disease |
|
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression |
ORPHA:280397 |
Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:300830 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety |
OMIM:617665 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression |
OMIM:159900 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Abnormal neuron morphology, Falls, Shuffling gait, Bradykinesia, Apathy, ... |
ORPHA:412066 |
Huntington Disease-Like 2 |
|
Dystonia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression |
OMIM:606438 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation |
OMIM:137580 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking |
OMIM:619191 |
Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Anxiety, Ga... |
ORPHA:71517 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Bradykinesia, Resting tremor, Anxiety, Depression |
OMIM:605909 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tremor, Head... |
OMIM:604326 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Inappropriate behavior, Tremor, Ataxia, Anxiety, Depression |
ORPHA:401901 |
Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression |
OMIM:128235 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... |
ORPHA:3077 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Bradykinesia, Resting tremor, Anxiety, Blepharospasm, Leg dystonia |
OMIM:606324 |
Parkinsonism With Polyneuropathy |
|
Anxiety, Resting tremor, Depression, Bradykinesia |
OMIM:619279 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Huntington Disease-Like 1 |
|
Dysmetria, Aggressive behavior, Unsteady gait, Anxiety, Depression |
OMIM:603218 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking |
ORPHA:3198 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... |
ORPHA:248111 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Agoraphobia, Fatigable weakness, Tremor, Inability to w... |
ORPHA:255 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:300983 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Dysmetria, Tremor, Ataxia, Irritability, Anxiety, Gait ataxia, Depression |
OMIM:618093 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia |
OMIM:612716 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Dystonia 26, Myoclonic |
|
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm |
OMIM:616398 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Hyperactivity, Ataxia |
OMIM:615924 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Perry Syndrome |
|
Dystonia, Inappropriate behavior, Suicidal ideation, Apathy, Bradykinesia, Tremor, Short stepped ... |
OMIM:168605 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia |
OMIM:609425 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Personality disorder |
ORPHA:2382 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... |
ORPHA:98818 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Exaggerated startle res... |
ORPHA:309246 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Dysmetria, Aggressive behavior, Bradykinesia, Tremor, Ataxia, Dysdiadochokinesis, Anxie... |
OMIM:615157 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
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, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Panic attack, Axial dystonia, Writer's cramp, Torticollis, Limb tremor, Focal dystonia, Craniofac... |
ORPHA:420492 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... |
ORPHA:96369 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Resting tremor, Anxiety |
OMIM:606703 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ata... |
ORPHA:228360 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Resting tremor,... |
OMIM:300623 |
Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Anxiety, Impulsivity |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... |
ORPHA:485350 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Amyotrophic lateral sclerosis, Emotio... |
ORPHA:803 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia |
ORPHA:500180 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
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, Limb dystonia, Irritability, E... |
OMIM:608643 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Stiff-Person Syndrome |
|
Opisthotonus, Agoraphobia, Exaggerated startle response, Anxiety, Depression |
OMIM:184850 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Aggressive behavior, Hyperactivity, Anxiety |
OMIM:300558 |
Adenylosuccinase Deficiency |
|
Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... |
OMIM:103050 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Hyperactivity, Inability to walk, Irritability, Emotional lability, Attention defic... |
ORPHA:1929 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Emotional... |
OMIM:610217 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal ... |
ORPHA:1942 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Gait ataxia |
OMIM:300354 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia |
ORPHA:363400 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
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 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response |
OMIM:272750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... |
ORPHA:449291 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Hyperactivity, At... |
ORPHA:163681 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:369939 |
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 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unsteady gait |
ORPHA:35069 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Hyperactivity, Ataxia, Depression, Bipolar affective disorder |
OMIM:601853 |
Tay-Sachs Disease |
|
Apathy, Exaggerated startle response |
OMIM:272800 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Inappropriate laughter, Tremor, Hyperactivity, Ataxia, Broad-base... |
ORPHA:98794 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... |
ORPHA:168491 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Intellectual Disability, Birk-Barel Type |
|
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscles |
ORPHA:166108 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Aggressive behavior, Hyperactivity, Anxiety, Ataxia |
OMIM:618430 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Tay-Sachs Disease |
|
Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... |
ORPHA:845 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:610042 |
Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... |
OMIM:123450 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Angelman Syndrome |
|
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait |
OMIM:105830 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Aggressive behavior, Inappropriate laughter, Tremor, Hyp... |
ORPHA:72 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter |
ORPHA:363686 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Tremor, Ataxia, Impulsivity, Unsteady gait, Attention deficit hyperactivity disorder, Difficulty ... |
ORPHA:442835 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation |
OMIM:300486 |
Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior |
OMIM:252920 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Self-mutilation |
ORPHA:412035 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... |
ORPHA:2388 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance |
OMIM:309520 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Citrullinemia Type Ii |
|
Aggressive behavior, Tremor, Hyperactivity, Irritability, Lethargy |
ORPHA:247585 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Pediatric-Onset Graves Disease |
|
Tremor, Hyperactivity, Irritability, Mood swings |
ORPHA:525731 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
ORPHA:8 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Gait disturbance, Dystonia, Bradykinesia, Depression, Tremor, Hyperactivity, Ataxia, Akinesia, Bl... |
OMIM:234200 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:85293 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:300912 |
Familial Gestational Hyperthyroidism |
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Hyperactivity, Hand tremor |
ORPHA:99819 |
X-Linked Cerebral Adrenoleukodystrophy |
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Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperactivity, Hand tremor |
ORPHA:424 |
Sandhoff Disease |
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Ataxia, Exaggerated startle response |
OMIM:268800 |
Argininemia |
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Hyperactivity, Spastic gait, Irritability |
OMIM:207800 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
Hyperlysinemia |
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Opisthotonus, Dysmetria, Tremor, Hyperactivity, Tip-toe gait |
ORPHA:2203 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Hyperthyroidism, Nonautoimmune |
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Hyperactivity |
OMIM:609152 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Exaggerated startle response |
ORPHA:521426 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Dystonia, Violent behavior, Head titubation, Torticollis, Suicidal ideation, Aggressive behavior,... |
OMIM:619475 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Wiedemann-Steiner Syndrome |
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Aggressive behavior, Hyperactivity, Anxiety, Low frustration tolerance |
ORPHA:319182 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, Attention defi... |
ORPHA:805 |
Early Infantile Epileptic Encephalopathy |
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Dystonia, Self-injurious behavior, Tremor, Hyperactivity, Episodic ataxia |
ORPHA:1934 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response |
OMIM:617527 |
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 |
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 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:619522 |
Developmental And Epileptic Encephalopathy 65 |
|
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OMIM:618008 |