| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Tremor |
OMIM:615924 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia |
OMIM:300983 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Hyperactivity, Broad-based gait |
OMIM:619470 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Ataxia, Tremor |
OMIM:612716 |
| Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
| Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Tremor, Hyperactivity, Resting tremor, Broad-based gait |
ORPHA:3077 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
| Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity |
OMIM:616977 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Hyperactivity, Inability to walk |
OMIM:618718 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Gait ataxia |
OMIM:609425 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity |
OMIM:618362 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity |
ORPHA:521258 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity |
OMIM:300979 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls |
ORPHA:2382 |
| Cln5 Disease |
|
Dysmetria, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, ... |
ORPHA:228360 |
| Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia |
ORPHA:363400 |
| Phenylketonuria |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
| Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Broad-based gait |
OMIM:617865 |
| Landau-Kleffner Syndrome |
|
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia |
ORPHA:98818 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Limb dystonia, Oculogyric cris... |
OMIM:608643 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Broad-based gait |
ORPHA:457260 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder |
ORPHA:1942 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity |
OMIM:615516 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Inability to walk, Gait ataxia |
ORPHA:500180 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301013 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia |
OMIM:271980 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk |
ORPHA:1929 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Dysdiadochokinesis, Gait ataxia |
OMIM:610217 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity |
OMIM:615824 |
| Myopathy With Extrapyramidal Signs |
|
Dystonia, Tremor, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Broad-based gait |
OMIM:300958 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity |
OMIM:275000 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait |
ORPHA:438216 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:52503 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity |
ORPHA:101039 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait |
ORPHA:35069 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Tremor, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:98794 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Inability to walk, Gait ataxia, Opisthotonus |
OMIM:103050 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity |
OMIM:618314 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
| Angelman Syndrome |
|
Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor |
ORPHA:99819 |
| Tay-Sachs Disease |
|
Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Laryngeal dystonia, Tremor, ... |
ORPHA:845 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor |
ORPHA:424 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder |
ORPHA:43 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia |
OMIM:610042 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
| Sandhoff Disease |
|
Ataxia, Exaggerated startle response |
OMIM:268800 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Gait disturbance, Bradykinesia, Tremor, Hyperactivity, Ataxia, Akinesia, Blepharospasm |
OMIM:234200 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Citrullinemia Type Ii |
|
Tremor, Hyperactivity, Lethargy |
ORPHA:247585 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
| 47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:8 |
| Hyperlysinemia |
|
Opisthotonus, Dysmetria, Tremor, Hyperactivity, Tip-toe gait |
ORPHA:2203 |
| Brain-Lung-Thyroid Syndrome |
|
Dystonia, Falls, Intention tremor, Hyperactivity, Ataxia |
ORPHA:209905 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Legius Syndrome |
|
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
| 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 |
|
Exaggerated startle response |
OMIM:617527 |
| Argininemia |
|
Hyperactivity, Spastic gait |
OMIM:207800 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Hyperactivity, Unsteady gait, Ataxia |
OMIM:614756 |
| Choreoacanthocytosis |
|
Head titubation, Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Falls, Bradykinesi... |
ORPHA:2388 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Inability to walk, Exaggerated startle response, Broad-based gait |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:619522 |
