| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Seizure, Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Status epilepticus, Impulsivity |
OMIM:620448 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... |
OMIM:619970 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Seizure, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Seizure, Hyperactivity |
ORPHA:356996 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity, Seizure |
ORPHA:436151 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Inflexible adherence ... |
OMIM:608636 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactiv... |
OMIM:617113 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
| Landau-Kleffner Syndrome |
|
Emotional lability, Bilateral tonic-clonic seizure with generalized onset, Social and occupationa... |
ORPHA:98818 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Falls, Myoclonus, Focal-onset seizure, Irritability, Aggressive behavior, G... |
ORPHA:2382 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t... |
ORPHA:208441 |
| Stxbp1-Related Encephalopathy |
|
Ataxia, Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Inability to wa... |
ORPHA:599373 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... |
OMIM:301008 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Seizure, Generalized-onset seizure, Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity, Seizure |
OMIM:300271 |
| Hartnup Disorder |
|
Seizure, Episodic ataxia, Emotional lability, Generalized tonic seizure, Attention deficit hypera... |
OMIM:234500 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Tremor, Delayed early-childhood social milestone development, Dys... |
OMIM:618090 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Mental deterioration, Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyp... |
OMIM:619191 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Seizure, Myoclonus, Tremor, Hyperactivity, Ataxia, Dystonia |
OMIM:615924 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Childhood Disintegrative Disorder |
|
Mental deterioration, Seizure, Abnormal emotion, Reduced social reciprocity, Motor deterioration,... |
ORPHA:168782 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Ataxia, Focal impaired awareness seizure, Seizure, Aggressive behavior, ... |
ORPHA:382 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Unsteady gait, Compulsive behaviors, Dy... |
OMIM:301107 |
| Juvenile Huntington Disease |
|
Broad-based gait, Depression, Seizure, Myoclonus, Gait ataxia, Irritability, Hyperactivity, Ataxi... |
ORPHA:248111 |
| Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Memory impairmen... |
ORPHA:1929 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Seizure, Resting tremor, Tremor... |
ORPHA:3077 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Cognitive impairment, Exaggerate... |
ORPHA:309246 |
| Glycine Encephalopathy 1 |
|
Seizure, Myoclonus, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Hyperprolinemia, Type I |
|
Seizure, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Status epilepticus |
OMIM:239500 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Seizure, Ataxia |
OMIM:613402 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Memory impairment, Inappropriate behavior, Seizure, Generalized-onset se... |
OMIM:619827 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Seizure, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Reduced social r... |
OMIM:610042 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:620270 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... |
OMIM:615516 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive behaviors |
OMIM:619927 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Seizure, Tremor, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:300983 |
| Hsd10 Disease |
|
Seizure, Myoclonus, Short attention span, Tremor, Gait disturbance, Ataxia, Dysphagia, Choreoathe... |
ORPHA:391417 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Seizure, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperacti... |
OMIM:618718 |
| Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Typical absence seizure, Crouch gait, Myoclonus, Gait ataxia, Focal hemiclonic... |
OMIM:620145 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Seizure, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivit... |
ORPHA:411515 |
| Phenylketonuria |
|
Depression, Seizure, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hypera... |
OMIM:261600 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Memory impairment, Seizure, Confusion, Myoclonus, Disinhibition, Ataxia, Dementia, Semantic demen... |
ORPHA:1020 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity, Seizure |
OMIM:617182 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity, Seizure |
OMIM:248510 |
| Myoclonic-Astatic Epilepsy |
|
Ataxia, Generalized non-motor (absence) seizure, Abnormal emotion, Focal-onset seizure, Tremor, R... |
ORPHA:1942 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Seizure |
OMIM:300928 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, H... |
OMIM:271980 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Obsessive-compulsive trait, Motor deterioration, Ataxia, Motor stereotypy, ... |
ORPHA:168491 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Atte... |
OMIM:620292 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Depression, Generalized non-motor (absence) seizure, Seizure, Infantile ... |
ORPHA:485350 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Seizure, Generalized-onset seizure, Self-mutilation, Aggressive behavior, Hyperactivity, Bilatera... |
OMIM:604317 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:75858 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Generalized non-motor (absence) seizure, Seizure, Short attention span, Aggressive behavior, Hype... |
OMIM:300558 |
| Childhood Absence Epilepsy |
|
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, Febrile seizure (... |
ORPHA:64280 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Seizure, Recurrent hand flapping, ... |
ORPHA:449291 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Seizure, Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia,... |
ORPHA:500180 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Seizure, Progressive psychomotor deterioration, Myoclonus, Limb dystonia, Tremor, Gait ataxia, Hy... |
ORPHA:363400 |
| Hyperlysinemia, Type I |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Short attention span, Hyp... |
OMIM:238700 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Depression, Seizure, Aggressive behavior, Hyperactivity, Compulsive beha... |
OMIM:619467 |
| Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Opisthotonus... |
OMIM:619913 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Seizure |
OMIM:301013 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, Seizure |
OMIM:617169 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Seizure, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laughter, Impulsivity,... |
OMIM:620445 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Recurrent hand flapping, Myoclonus, A... |
OMIM:617600 |
| Gand Syndrome |
|
Tics, Inappropriate laughter, Hyperactivity |
OMIM:615074 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Seizure, Short attention span, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:620242 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Young-Onset Parkinson Disease |
|
Depression, Frontal lobe dementia, Gait imbalance, Short attention span, Restless legs, Agitation... |
ORPHA:2828 |
| Infantile Neuroaxonal Dystrophy |
|
Mental deterioration, Seizure, Short attention span, Emotional lability, Dystonia, Unsteady gait,... |
ORPHA:35069 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Mental deterioration, Seizure, Low frustration tolerance, Self-mutilati... |
ORPHA:163681 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Seizure, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapp... |
ORPHA:98794 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inappropriate laughter, S... |
OMIM:614104 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Mental deterioration, Dysdiadochokinesis, Seizure, Short attention span, Emotional lability, Dysm... |
OMIM:610217 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Seizure, Inability to walk, Short attention span, Irritability, Exaggerated startle response, Sta... |
OMIM:617864 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Aggressive behavior, Broad-based gait, Hyperactivity, Seizure |
ORPHA:457260 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Seizure, Polyphagia, Motor stereotypy, Hyperactivity, Ataxia, Paroxysmal... |
ORPHA:228402 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Seizure, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior |
ORPHA:530983 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
| Chromosome Xq13 Duplication Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Emotional lability, Dimin... |
OMIM:301069 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Difficulty walking, Confusion, Delirium, Restlessness... |
ORPHA:100924 |
| Tay-Sachs Disease |
|
Memory impairment, Depression, Typical absence seizure, Seizure, Laryngeal dystonia, Inability to... |
ORPHA:845 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Emotional lability, Irritability, Ton... |
OMIM:608643 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Seizure, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response, Focal ... |
OMIM:618056 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Falls, Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Seizure, Hyperactivity, Impulsivity |
OMIM:300143 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Depression, Seizure, Exaggerated startle response |
OMIM:620114 |
| Adenylosuccinase Deficiency |
|
Seizure, Inability to walk, Inappropriate laughter, Myoclonus, Gait ataxia, Self-mutilation, Aggr... |
OMIM:103050 |
| X-Linked Adrenoleukodystrophy |
|
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, H... |
ORPHA:43 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Myoclonic seizure, Seizure, Infantile spasms, Myoclonus, Agitation, Irritability, Hyperactivity, ... |
OMIM:620423 |
| Optic Atrophy 11 |
|
Seizure, Stereotypical body rocking, Dysmetria, Attention deficit hyperactivity disorder, Hyperac... |
OMIM:617302 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Tonic seizure, Infantile spasms, Hyperactivity, Seizure |
OMIM:619239 |
| Mucopolysaccharidosis, Type Iiib |
|
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity, Seizure |
OMIM:252920 |
| Citrullinemia Type Ii |
|
Memory impairment, Seizure, Confusion, Abnormal eating behavior, Tremor, Irritability, Aggressive... |
ORPHA:247585 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Seizure, Generalized-onset seizure, Hyperactivity, Self-biting, Status epilepticus |
OMIM:618314 |
| Tay-Sachs Disease |
|
Dementia, Psychomotor deterioration, Seizure, Exaggerated startle response |
OMIM:272800 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Mental deterioration, Memory impairment, Limb myoclonus, Seizure, Difficulty walking, Confusion, ... |
ORPHA:139396 |
| Metachromatic Leukodystrophy, Adult Form |
|
Memory impairment, Depression, Seizure, Progressive psychomotor deterioration, Difficulty walking... |
ORPHA:309271 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Seizure, Progressive psychomotor deterioration, Short attention span, Emotional lability, Progres... |
ORPHA:309263 |
| Angelman Syndrome |
|
Self-injurious behavior, Ataxia, Broad-based gait, Seizure, Inability to walk, Inappropriate laug... |
ORPHA:72 |
| Graves Disease |
|
Polyphagia, Hyperactivity, Irritability |
OMIM:275000 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Ataxia, Generalized non-motor (absence) seizure, Bulimia, Bruxism, Stereotypical body rocking, In... |
OMIM:300912 |
| Developmental And Epileptic Encephalopathy 49 |
|
Myoclonic seizure, Myoclonus, Tonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Exagg... |
OMIM:617281 |
| 47,Xyy Syndrome |
|
Seizure, Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperactivity, Imp... |
ORPHA:8 |
| X-Linked Creatine Transporter Deficiency |
|
Seizure, Self-mutilation, Hyperactivity, Ataxia, Dystonia, Athetosis |
ORPHA:52503 |
| Developmental And Epileptic Encephalopathy 8 |
|
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star... |
OMIM:300607 |
| Hyperekplexia-Epilepsy Syndrome |
|
Generalized tonic seizure, Focal impaired awareness seizure, Exaggerated startle response |
ORPHA:163985 |
| Niemann-Pick Disease Type C |
|
Mental deterioration, Limb dystonia, Axial dystonia, Cognitive impairment, Ataxia, Dysphagia, Abn... |
ORPHA:646 |
| Gm2-Gangliosidosis, Ab Variant |
|
Myoclonic seizure, Seizure, Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Ataxia, Broad-based gait, Seizure, Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Oculogyric crisis, Seizure, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Dysto... |
OMIM:612716 |
| Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity |
OMIM:608747 |
| Choreoacanthocytosis |
|
Mental deterioration, Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of am... |
ORPHA:2388 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Exaggerated startle response, Irritability |
OMIM:616881 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Phonic tics, Mental deterioration, Blepharospasm, Depression, Akinesia, Obsessive-compulsive trai... |
OMIM:234200 |
| Stiff-Person Syndrome |
|
Opisthotonus, Depression, Myoclonic spasms, Exaggerated startle response |
OMIM:184850 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Developmental And Epileptic Encephalopathy 68 |
|
Myoclonus, Status epilepticus, Exaggerated startle response |
OMIM:618201 |
| Sandhoff Disease |
|
Ataxia, Myoclonic seizure, Progressive psychomotor deterioration, Bilateral tonic-clonic seizure,... |
OMIM:268800 |
| Sandhoff Disease, Infantile Form |
|
Myoclonic seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response |
ORPHA:309155 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Focal myoclonic seizure, Intention tremor, Dysmetria, Aggressive behavior, Ata... |
ORPHA:314647 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Seizure, Generalized-onset seizure, Cognitive impairment, Exaggerated startle response, Dysphagia |
OMIM:617527 |
| Hyperekplexia 1 |
|
Myoclonus, Nocturnal seizures, Seizure, Exaggerated startle response |
OMIM:149400 |
| Early Infantile Epileptic Encephalopathy |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (withi... |
ORPHA:1934 |
| Hyperekplexia 3 |
|
Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response |
OMIM:614618 |
| Legius Syndrome |
|
Seizure, Short attention span, Attention deficit hyperactivity disorder, Hyperactivity, Cognitive... |
ORPHA:137605 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Seizure, Irritability, Tonic seizure, Exaggerated startle response, Atonic seizure, Dysphagia, Fo... |
OMIM:618367 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Seizure, Ataxia |
OMIM:620047 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Argininemia |
|
Seizure, Irritability, Hyperactivity, Anorexia, Spastic gait |
OMIM:207800 |
| Tuberous Sclerosis Complex |
|
Self-injurious behavior, Depression, Seizure, Epileptic spasm, Infantile spasms, Aggressive behav... |
ORPHA:805 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ataxia, Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Bilateral tonic... |
OMIM:620451 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Hyperekplexia 2 |
|
Myoclonus, Exaggerated startle response |
OMIM:614619 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Hyperactivity, Agitation |
ORPHA:99819 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Infantile spasms, Irritability, Hair-pulling, Dysphagia, Hyperactivity, Myoclonic spasms, Bilater... |
ORPHA:447997 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Hyperactivity, Agitation |
ORPHA:424 |
| Asparagine Synthetase Deficiency |
|
Seizure, Tremor, Irritability, Exaggerated startle response, Clonic seizure |
OMIM:615574 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Impaired oropharyngeal swallow response, Seizure, Exaggerated startle response |
ORPHA:521426 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Exaggerated startle response |
OMIM:617301 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Myoclonic seizure, Tremor, Exaggerated startle response |
OMIM:620327 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... |
ORPHA:353281 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Seizure, Hand tremor, Gait ataxia, Dysmetria, Aggressive behavior, Attention de... |
OMIM:614756 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Seizure, Exaggerated startle response |
OMIM:253800 |
| Gm1 Gangliosidosis Type 1 |
|
Seizure, Exaggerated startle response |
ORPHA:79255 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Seizure, Emotional lability, Reduced soc... |
ORPHA:353277 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, Inability to walk, Epilep... |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Seizure, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated startle response, Motor... |
OMIM:619522 |
