| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, Impaired abili... |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, Impaired abili... |
OMIM:209850 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy |
OMIM:617787 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... |
OMIM:608631 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Seizure, Bilateral tonic-clonic seizure, Inflexible adherence to routines, ... |
OMIM:608636 |
| Autism, Susceptibility To, X-Linked 3 |
|
Inflexible adherence to routines, Seizure, Restrictive behavior, Motor stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Inflexible adherence to routines, Seizure, Restrictive behavior, Motor stereotypy |
OMIM:300425 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Seizure, Bruxism, Aggressive behavior |
OMIM:615493 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Agitation, Emotional lability, Bilateral tonic-clonic seizure, Motor stereotypy, Status epileptic... |
OMIM:617171 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Seizure, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Agitation, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Tonic seizure... |
OMIM:619970 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Seizure, Motor stereotypy |
OMIM:300271 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors |
OMIM:618830 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Seizure, Abnormal social behavior |
ORPHA:436151 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... |
ORPHA:101039 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Depression, Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:603204 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Reduced social reciprocity, Motor stereotypy |
OMIM:606053 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Impulsivity, Atypical absence se... |
OMIM:617113 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Seizure, Impulsivity, Dysphagia, Status epilepticus |
OMIM:620448 |
| Developmental And Epileptic Encephalopathy 107 |
|
Seizure, Clonic seizure, Tonic seizure, Motor stereotypy |
OMIM:620033 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Autism, Susceptibility To, X-Linked 2 |
|
Inflexible adherence to routines, Seizure, Restrictive behavior, Motor stereotypy |
OMIM:300495 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Motor stereotypy |
OMIM:616341 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Irritability, Seizure, Generalized-onset seizure |
OMIM:616657 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Aggressive behavior, Seizure, Bilateral tonic-clonic seizure, Foc... |
ORPHA:208441 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Focal-onset seizure, Seizure, Inappropriate laughter, Motor stereotypy, Focal motor status epilep... |
OMIM:619150 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... |
OMIM:301008 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Seizure, Motor stereotypy, Status epilepticus, Aggressive behavior |
OMIM:239500 |
| Developmental And Epileptic Encephalopathy 9 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... |
OMIM:300088 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism, Myoclonus |
OMIM:606840 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Seizure, Inflexible adherence to routines, Motor stereotypy, Impaired abili... |
OMIM:608049 |
| Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Stereotypical hand wringing, Bilateral tonic-cl... |
OMIM:616056 |
| Lennox-Gastaut Syndrome |
|
Irritability, Generalized myoclonic seizure, Focal-onset seizure, Hyperactivity, Bilateral tonic-... |
ORPHA:2382 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy |
OMIM:618709 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Seizure, Reduced social reciprocity, Motor stereotypy |
OMIM:617820 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Developmental And Epileptic Encephalopathy 58 |
|
Status epilepticus, Seizure, Motor stereotypy |
OMIM:617830 |
| Hartnup Disorder |
|
Hyperactivity, Emotional lability, Seizure, Attention deficit hyperactivity disorder, Generalized... |
OMIM:234500 |
| Pick Disease Of Brain |
|
Irritability, Emotional blunting, Polyphagia, Inappropriate laughter, Disinhibition, Motor stereo... |
OMIM:172700 |
| Glycine Encephalopathy 1 |
|
Irritability, Hyperactivity, Seizure, Impulsivity, Restlessness, Myoclonus, Aggressive behavior |
OMIM:605899 |
| Landau-Kleffner Syndrome |
|
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... |
ORPHA:98818 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Bilateral tonic-c... |
ORPHA:275864 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy |
OMIM:620065 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Pandas |
|
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... |
ORPHA:66624 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Generalized myoclonic seizure, Hyperactivity, Focal motor seizure, Seizure, Infa... |
ORPHA:599373 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Seizure, Clonic seizure, Motor stereotypy |
OMIM:615282 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Focal-onset seizure, Nocturnal seizures, Seizure, Infantile spasms, Tonic seizure, ... |
OMIM:617393 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure, Recurrent hand flapping, Dysphagia, Motor stereotypy |
OMIM:617862 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Dysphagia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Dysphagia |
OMIM:613412 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:517 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure |
OMIM:301076 |
| N-Acetylaspartate Deficiency |
|
Seizure, Self-mutilation, Motor stereotypy |
OMIM:614063 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Seizure, Reduced social reciprocity, Stereotypical hand wringing |
ORPHA:397933 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Seizure, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Seizure |
OMIM:613402 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica |
OMIM:617270 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Generalized non-motor (absence) seizure, Seizure, Polyphagia, Motor stereotypy |
OMIM:613886 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure wit... |
OMIM:610042 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Focal-onset seizure, Compulsive behaviors, Stereotypical hand wringing, Bilateral tonic-clonic se... |
OMIM:618917 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Generalized myoclonic seizure, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Atonic sei... |
ORPHA:382 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:300454 |
| Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Histiocytosis, Leukemia |
ORPHA:157991 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... |
OMIM:212050 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Seizure, Compulsive behaviors, Phonic tics, Aggressive behavior |
OMIM:301107 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Seizure, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of ... |
OMIM:618718 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Childhood Disintegrative Disorder |
|
Abnormal emotion, Seizure, Reduced social reciprocity, Motor stereotypy |
ORPHA:168782 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Inappropriate behavior, Myoclonus, Disinhibition, Motor stereotypy, Restlessness, Aggressive beha... |
OMIM:600795 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Generalized myoclonic seizure, Hyperactivity, Delayed early-childhood social milestone developmen... |
OMIM:618090 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Seizure, Generalized-onset seizure, Bilateral... |
OMIM:619827 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Seizure |
OMIM:300928 |
| Foxg1 Syndrome |
|
Focal-onset seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-clonic seizur... |
ORPHA:561854 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Recurrent hand flapping, ... |
OMIM:618141 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... |
OMIM:620292 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Seizure, Aggressive behavior |
OMIM:248510 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Seizure |
ORPHA:85288 |
| Cdkl5-Deficiency Disorder |
|
Focal-onset seizure, Infantile spasms, Stereotypical hand wringing, Inappropriate laughter, Gener... |
ORPHA:505652 |
| Developmental And Epileptic Encephalopathy 6B |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... |
OMIM:619317 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper... |
OMIM:613670 |
| Developmental And Epileptic Encephalopathy 109 |
|
Typical absence seizure, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic ... |
OMIM:620145 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Seizure, Bruxism |
OMIM:300434 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Motor tics, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Childhood Absence Epilepsy |
|
Typical absence seizure, Abnormal social behavior, Depression, Myoclonic absence seizure, Limb my... |
ORPHA:64280 |
| Bilateral Generalized Polymicrogyria |
|
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Or... |
ORPHA:208447 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia, Unsteady gait |
OMIM:618092 |
| Morm Syndrome |
|
Hyperactivity, Micropenis, Aggressive behavior |
ORPHA:75858 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Seizure, B... |
OMIM:271980 |
| Rasmussen Subacute Encephalitis |
|
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... |
ORPHA:1929 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Myoclonic seizure, Motor stereotypy |
OMIM:619690 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Generalized non-motor (absence) seizure, Hyperactivity, Recurrent hand flapping, Bilateral tonic-... |
OMIM:617600 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Seizure, Abnormal aggressi... |
ORPHA:3077 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy |
OMIM:618906 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Seizure, Stereotypical hand wringing, Bilateral tonic-clonic seizure, Tonic seiz... |
OMIM:618497 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Seizure, Generalized-onset seizure, Impulsivity, Bilateral tonic-clonic seizure, S... |
OMIM:604317 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Seizure, Recurrent hand flapping, Febrile seizure (within the age range of 3 month... |
OMIM:615516 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Seizure, Stereotypical hand wringing, Myoclonic seizure, Inappropriate laughter,... |
OMIM:614254 |
| Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
| Phenylketonuria |
|
Irritability, Hyperactivity, Depression, Seizure, Compulsive behaviors, Attention deficit hyperac... |
OMIM:261600 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:601859 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Emotional lability, Disinhibition, Dysphagia, Motor stereotypy |
OMIM:612069 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Seizure, Aggressive behavior |
OMIM:300983 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Difficulty walking |
OMIM:253600 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... |
OMIM:615637 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder, Seizure |
OMIM:617182 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Seizure, Myoclonus |
OMIM:615924 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinoph... |
ORPHA:169160 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Seizure, Recurrent hand flappi... |
ORPHA:449291 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:603909 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Generalized non-motor (absence) seizure, Hyperactivity, Depression, Seizure, Infantile spasms, Fo... |
ORPHA:485350 |
| Xq25 Microduplication Syndrome |
|
Hyperactivity, Seizure |
ORPHA:521258 |
| Shukla-Vernon Syndrome |
|
Seizure, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beha... |
OMIM:301029 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity, Seizure |
OMIM:617169 |
| Developmental And Epileptic Encephalopathy 66 |
|
Focal-onset seizure, Generalized tonic seizure, Seizure, Focal tonic seizure, Bilateral tonic-clo... |
OMIM:618067 |
| Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis, Dysphagia |
ORPHA:2070 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:609425 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Self-injurious behavior, Seizure, Aggressive behavior |
OMIM:618362 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Seizure, Recurrent hand flapping, Compulsive behaviors |
OMIM:620021 |
| Hereditary Folate Malabsorption |
|
Anorexia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia |
ORPHA:90045 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Depression, Seizure, Compulsive behaviors, Self-injurious behavior, Aggressive beh... |
OMIM:619467 |
| Lopes-Maciel-Rodan Syndrome |
|
Agitation, Seizure, Dysphagia, Motor stereotypy, Focal impaired awareness seizure, Bruxism |
OMIM:617435 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Focal hyperkinetic seizure, Nocturnal seizures, Depression, Bilateral tonic-clonic seizure, Motor... |
ORPHA:98784 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... |
ORPHA:169154 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Obsessive-compulsive trait, Generalized myoclonic seizure, Focal-onset seizure, Typical absence s... |
ORPHA:168491 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:615541 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Seizure, Bilateral tonic-clonic seizure |
OMIM:609924 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Seizure, Stereotypical hand wringing, Febrile seizure (within the age range of 3 m... |
OMIM:614104 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Tongue thrusting, Emotional lability, Recurrent hand flapping, Impulsivity, Bila... |
OMIM:619580 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Seizure, Motor stereotypy, Excessive shyness |
ORPHA:280763 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Seizure, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts ... |
ORPHA:228402 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Nocturnal seizures, Bilateral tonic-clonic seizure, Motor tics, Motor stereotypy, Myoclonus, Atte... |
OMIM:619725 |
| Cinca Syndrome |
|
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis |
OMIM:607115 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Seizure, Motor stereotypy |
ORPHA:530983 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... |
OMIM:304790 |
| Juvenile Huntington Disease |
|
Irritability, Hyperactivity, Depression, Seizure, Myoclonus |
ORPHA:248111 |
| Myoclonic-Astatic Epilepsy |
|
Generalized non-motor (absence) seizure, Simple febrile seizure, Focal-onset seizure, Generalized... |
ORPHA:1942 |
| Developmental And Epileptic Encephalopathy 103 |
|
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Hyperactivity, Bilate... |
OMIM:619913 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Generalized non-motor (absence) seizure, Agitation, Hyperactivity, Seizure, Bilateral tonic-cloni... |
OMIM:300558 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Depression, Seizure, Dysphoria, Motor stereotypy, Attention deficit hyperactivity ... |
OMIM:620242 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Seizure, Bruxism, Recurrent hand flapping |
OMIM:613192 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia |
OMIM:615387 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Eosinophilia, Membranous nephropathy, Hepatosplenomegaly |
OMIM:618999 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Mo... |
OMIM:619092 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Seizure, Compulsive behaviors, Repetitive compulsive behavior, Motor stereotypy, A... |
ORPHA:352490 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Generalized non-motor (absence) seizure, Infantile spasms, Atonic seizure, Motor stereotypy, Myoc... |
ORPHA:411986 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy |
OMIM:620502 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Seizure, Motor stereotypy, Attention deficit hyperactivity disorder, ... |
OMIM:618825 |
| Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Seizure |
OMIM:300979 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Motor stereotypy |
ORPHA:85277 |
| Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia |
OMIM:620532 |
| Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
| Roifman Syndrome |
|
Eosinophilia, Splenomegaly |
OMIM:616651 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Seizure, Aggressive behavior |
OMIM:301013 |
| Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities |
|
Hyperactivity, Seizure, Impulsivity, Self-mutilation, Paroxysmal bursts of laughter |
OMIM:620445 |
| Omenn Syndrome |
|
Anemia, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic syndrome, Splenomegaly, Eosinophilia |
ORPHA:39041 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Seizure, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Infantile ... |
OMIM:300912 |
| Trichotillomania |
|
Compulsive behaviors, Hair-pulling |
OMIM:613229 |
| Xq28 (MECP2) duplication |
|
Depression, Seizure, Dysphagia, Motor stereotypy |
DECIPHER:45 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Primary Dystonia, Dyt13 Type |
|
Motor stereotypy |
ORPHA:98807 |
| Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:443811 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Myoclonic seizure, Bilateral tonic-clonic seizure, Motor stereotypy |
OMIM:619877 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Seizure, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious be... |
OMIM:617695 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy |
OMIM:618504 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:619428 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Inability to walk, Hyperactivity, Nephrolithiasis, Self-injurious behavior, Choreoathetosis, Aggr... |
OMIM:620023 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Seizure, Abnormal fear-induced behavior |
ORPHA:309246 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... |
OMIM:617044 |
| Houge-Janssens Syndrome 3 |
|
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... |
OMIM:618354 |
| Galloway-Mowat Syndrome 6 |
|
Seizure, Motor stereotypy, Paroxysmal bursts of laughter |
OMIM:618347 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Seizure, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavior, Agg... |
ORPHA:313892 |
| Christianson Syndrome |
|
Inappropriate laughter, Dysphagia, Motor stereotypy, Generalized-onset seizure |
ORPHA:85278 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Emotional lability, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms, Dyspha... |
ORPHA:79264 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Seizure, Stereotypical hand wringing, Skin-picking, Motor stereotypy, Self-injurio... |
OMIM:600430 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Seizure, Bilateral tonic-clonic seizure, Motor stereotypy, Self-mutilation |
ORPHA:457240 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Sterile abscess |
OMIM:618282 |
| Immunodeficiency 23 |
|
Ataxia, Lymphopenia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Hemolytic a... |
OMIM:615816 |
| Fragile X Syndrome |
|
Hyperactivity, Seizure, Recurrent hand flapping, Self-biting |
OMIM:300624 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Seizure, Impulsivity |
OMIM:300143 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hematuria, Gait disturbance, Proteinuria, Dysphagia, Eosinophilia, Renal insufficiency, Tubuloint... |
ORPHA:183 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Seizure, Aggressive behavior |
ORPHA:457260 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Seizure, Impulsivity, Dysphagia, Aggressive behavior |
ORPHA:500180 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Nephrot... |
ORPHA:911 |
| 5Q14.3 Microdeletion Syndrome |
|
Seizure, Motor stereotypy |
ORPHA:228384 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Seizure, Motor stereotypy |
ORPHA:529965 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Seizure, Generalized-onset seizure, Status epilepticus, Self-biting |
OMIM:618314 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
OMIM:615952 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:618218 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Infantile spasms, Motor stereotypy, Self-injurious behavior, Generalized tonic seiz... |
OMIM:616393 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity, Seizure, Infantile spasms, Tonic seizure |
OMIM:619239 |
| Omenn Syndrome |
|
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... |
OMIM:603554 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Irritability, Hair-pulling, Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Myoc... |
ORPHA:447997 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Seizure, Motor stereotypy, Self-biting, Aggressive behavior |
ORPHA:3306 |
| Hijazi-Reis Syndrome |
|
Seizure, Motor stereotypy |
OMIM:301094 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Head-banging, Seizure, Self hugging, Motor stereotypy, Onychotillomania, Self-muti... |
OMIM:182290 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis |
ORPHA:449400 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neutropenia |
ORPHA:293173 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Motor stereotypy, Attention deficit hyperactivity disorder, Bruxism, Aggressive be... |
OMIM:618342 |
| Coffin-Siris Syndrome 6 |
|
Attention deficit hyperactivity disorder, Tics, Seizure, Motor stereotypy |
OMIM:617808 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormal temper tantrums, Focal-onset seizure, Hyperactivity, Low frustration tolerance, Seizure,... |
ORPHA:163681 |
| Alazami Syndrome |
|
Seizure, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutilation |
ORPHA:319671 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Nephrotic syndrome, Eosinophilia, Renal insufficiency, Tubulointerstitial nephritis |
ORPHA:139402 |
| Hyperlysinemia, Type I |
|
Argininuria, Anemia, Hyperactivity, Dysdiadochokinesis, Ornithinuria, Hyperlysinuria, Homocitrull... |
OMIM:238700 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Infantile spasms, Myoclonic seizure, Dysphagia, Motor stereotypy |
ORPHA:572013 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Bilateral tonic-clonic seizure, Motor stereotypy |
OMIM:616351 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Seizure, Motor stereotypy |
OMIM:613443 |
| Pilarowski-Bjornsson Syndrome |
|
Seizure, Motor stereotypy |
OMIM:617682 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Seizure, Motor stereotypy, Oral-pharyngeal dysphagia |
OMIM:610883 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Generalized non-motor (absence) seizure, Depression, Seizure, Hostility, Tonic seizure, Dysphagia... |
OMIM:300260 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... |
OMIM:602450 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Irritability, Motor stereotypy, Aggressive behavior |
ORPHA:391307 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Inability to walk, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... |
OMIM:102700 |
| Cystic Echinococcosis |
|
Splenic cyst, Peritoneal abscess, Renal cyst, Eosinophilia, Membranous nephropathy, Abscess |
ORPHA:400 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Seizure, Motor stereotypy |
ORPHA:397612 |
| Late-Onset Isolated Acth Deficiency |
|
Anorexia, Eosinophilia, Normocytic anemia, Macrocytic anemia |
ORPHA:199299 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly |
OMIM:617388 |
| Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
| Angiostrongyliasis |
|
Hypereosinophilia, Irritability |
ORPHA:74 |
| Developmental And Epileptic Encephalopathy 64 |
|
Seizure, Motor stereotypy, Self-injurious behavior, Status epilepticus, Bruxism |
OMIM:618004 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... |
OMIM:243700 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Seizure, Compulsive behaviors, Motor stereotypy, Aggressive behavior |
OMIM:618430 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Seizure, Agitation, Emotional lability, Motor stereotypy |
ORPHA:927 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Seizure, Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Attention deficit hyper... |
OMIM:300986 |
| Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
| Rett Syndrome, Congenital Variant |
|
Irritability, Tongue thrusting, Seizure, Reduced social reciprocity, Motor stereotypy, Bruxism |
OMIM:613454 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Focal-onset seizure, Seizure, Dysphagia, Motor stereotypy, Status epilepticus |
OMIM:617802 |
| Developmental And Epileptic Encephalopathy 2 |
|
Generalized myoclonic seizure, Seizure, Infantile spasms, Generalized-onset seizure, Motor stereo... |
OMIM:300672 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:3261 |
| Alveolar Echinococcosis |
|
Liver abscess, Anemia, Abnormal spleen morphology, Renal cyst, Ataxia, Eosinophilia, Cutaneous ab... |
ORPHA:284 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Low frustration tolerance, Seizure, Motor stereotypy, Self-mutilation |
OMIM:300486 |
| Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Myoclonic seizure, Infantile spasms, Motor stereotypy |
OMIM:618205 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Irritability, Hyperactivity, Seizure, Motor stereotypy, Pica |
OMIM:617796 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Seizure, Agitation, Bruxism, Recurrent hand flapping |
OMIM:617903 |
| Incontinentia Pigmenti |
|
Attention deficit hyperactivity disorder, Eosinophilia, Gait disturbance |
ORPHA:464 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tongue thrusting, Hyperactivity, Seizure, Recurrent hand flapping, Inappropriate laughter, Dyspha... |
ORPHA:98794 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Seizure, Motor stereotypy |
ORPHA:238750 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Seizure, Motor stereotypy |
OMIM:617751 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia |
ORPHA:2314 |
| 48,Xxyy Syndrome |
|
Attention deficit hyperactivity disorder, Seizure, Depression, Motor stereotypy |
ORPHA:10 |
| Progressive Supranuclear Palsy |
|
Irritability, Depression, Emotional lability, Impulsivity, Abnormal synaptic transmission, Dysphagia |
ORPHA:683 |
| 22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Seizure, Compulsive behaviors, Motor stereotypy |
ORPHA:1727 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Seizure, Inappropriate laughter, Myoclonus, Self-mutilation, Aggressive behavior |
OMIM:103050 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Low frustration tolerance, Seizure, Motor stereotypy, Overfriendliness, Attention deficit hyperac... |
OMIM:619293 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Lymphopenia |
OMIM:617425 |
| Angelman Syndrome |
|
Generalized myoclonic seizure, Tongue thrusting, Hyperactivity, Seizure, Infantile spasms, Recurr... |
ORPHA:72 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Agitation, Difficulty walking, Abnormal fear-induced behavior, Increased urinary porphobilinogen,... |
ORPHA:100924 |
| Ritscher-Schinzel Syndrome 4 |
|
Focal-onset seizure, Impulsivity, Bilateral tonic-clonic seizure, Dysphagia, Motor stereotypy, Ag... |
OMIM:619435 |
| Graves Disease |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
| Igg4-Related Pachymeningitis |
|
Eosinophilia, Nephritis, Dysphagia |
ORPHA:449427 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... |
ORPHA:3260 |
| 47,Xyy Syndrome |
|
Hyperactivity, Seizure, Impulsivity, Reduced social reciprocity, Attention deficit hyperactivity ... |
ORPHA:8 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Seizure, Compulsive behaviors, Reduced social reciprocity, Motor stereotypy, Attention deficit hy... |
OMIM:615656 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Seizure, Compulsive behaviors, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disor... |
OMIM:617061 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Inappropriate l... |
OMIM:615802 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Generalized-onset seizure, Motor stereotypy |
OMIM:617807 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Seizure, Compulsive behaviors, Motor stereotypy |
OMIM:613174 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Seizure, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactivity disorder, ... |
OMIM:300352 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Hematuria |
OMIM:158310 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... |
ORPHA:2686 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Gait disturbance, Urinary bladder sphincter dysfunction, Disin... |
ORPHA:43 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Seizure, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperactivit... |
OMIM:619103 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Compulsive behaviors, Motor stereotypy |
OMIM:618027 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Low frustration tolerance, Seizure, Emotional lability, Compulsive behaviors, Redu... |
OMIM:309520 |
| Igg4-Related Kidney Disease |
|
Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Nephrotic range proteinuria, Tubuloi... |
ORPHA:449395 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hyperactivity, Decreased proportion of C... |
ORPHA:760 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Infantile spasms... |
ORPHA:457351 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Seizure, Reduced social reciprocity, Motor stereotypy |
ORPHA:261197 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Oppositional defiant disorder, Overfriendliness, Motor stereotypy, Self-mutilation... |
OMIM:123450 |
| Rett Syndrome |
|
Agitation, Seizure, Stereotypical hand wringing, Motor stereotypy, Bruxism |
ORPHA:778 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Seizure, Motor stereotypy |
ORPHA:500159 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Seizure, Febrile seizure (within the age range of 3 mon... |
OMIM:620073 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Generalized non-motor (absence) seizure, Generalized clonic seizure, Agitation, Focal myoclonic s... |
OMIM:619229 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| 3P25.3 Microdeletion Syndrome |
|
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... |
ORPHA:435638 |
| Radio-Tartaglia Syndrome |
|
Seizure, Impulsivity, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggr... |
OMIM:619312 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Hyperactivity, Urinary hesitancy, Urinary urgency, Nocturia |
OMIM:609727 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Motor stereotypy, Impulsivity, Aggressive behavior |
OMIM:618914 |
| Lymphatic Filariasis |
|
Hematuria, Urethral obstruction, Nephrotic syndrome, Proteinuria, Hypereosinophilia, Glomerulonep... |
ORPHA:2035 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Anemia, Vesicoureteral reflux, Leukocytosis, Hepatosplenomegaly, Thrombocyt... |
OMIM:274000 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Seizure, Motor stereotypy |
ORPHA:261144 |
| Choreoacanthocytosis |
|
Self-injurious behavior, Irritability, Socially inappropriate behavior, Hair-pulling, Hyperactivi... |
ORPHA:2388 |
| White-Sutton Syndrome |
|
Hypoglycemic seizures, Irritability, Hyperactivity, Tics, Overfriendliness, Motor stereotypy, Sel... |
OMIM:616364 |
| Histidinemia |
|
Hyperactivity, Histidinuria |
ORPHA:2157 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Irritability, Agitation, Focal-onset seizure, Hyperactivity, Seizure, Infantile spasms, Impulsivi... |
OMIM:620423 |
| Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis |
OMIM:308300 |
| Developmental And Epileptic Encephalopathy 100 |
|
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... |
OMIM:619777 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Seizure, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-m... |
ORPHA:476126 |
| Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Focal-onset seizure, Delayed early-childhood social milestone development, Emotional lability, Se... |
ORPHA:300570 |
| Smith-Magenis Syndrome |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Seizure, Motor stereotypy |
ORPHA:819 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior |
OMIM:619121 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Overfriendliness |
OMIM:616579 |
| Coccidioidomycosis |
|
Granuloma, Abnormality of the spleen, Eosinophilia, Renal insufficiency, Abscess |
ORPHA:228123 |
| 2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Seizure, Compulsive behaviors, Motor stereotypy |
ORPHA:1001 |
| Phelan-Mcdermid Syndrome |
|
Tongue thrusting, Seizure, Reduced social reciprocity, Motor stereotypy, Bruxism, Aggressive beha... |
OMIM:606232 |
| Kleefstra Syndrome 1 |
|
Seizure, Compulsive behaviors, Motor stereotypy, Aggressive behavior |
OMIM:610253 |
| Argininemia |
|
Anorexia, Irritability, Spastic gait, Oroticaciduria, Reduced erythrocyte arginase activity, Hype... |
OMIM:207800 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Seizure, Emotional lability |
OMIM:620047 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Low frustration tolerance, Seizure, Motor stereotypy, Aggressive behavior |
ORPHA:457279 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Generalized non-motor (absence) seizure, Hair-pulling, Nail-biting, Emotional lability, Polyphagi... |
OMIM:620330 |
| White-Sutton Syndrome |
|
Hyperactivity, Seizure, Compulsive behaviors, Febrile seizure (within the age range of 3 months t... |
ORPHA:468678 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Seizure, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-i... |
OMIM:620494 |
| Hydroxykynureninuria |
|
Motor stereotypy |
ORPHA:79155 |
| Transketolase Deficiency |
|
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... |
ORPHA:488618 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Seizure, Stereotypical hand wringing, Motor stereotypy, Self-mutilation, Aggressive behavior |
OMIM:212066 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Head-banging, Seizure, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperactivit... |
OMIM:619575 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Dy... |
ORPHA:496641 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Emotional lability, Seizure, Impulsivity, Dysphagia |
OMIM:610217 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Abnormal social behavior, Head-banging, Seizure, Compulsive behaviors, ... |
ORPHA:177907 |
| Tuberous Sclerosis Complex |
|
Epileptic spasm, Focal-onset seizure, Abnormal social behavior, Hyperactivity, Depression, Seizur... |
ORPHA:805 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Motor stereotypy, Aggressive behavior |
OMIM:619695 |
| Megalocornea-Intellectual Disability Syndrome |
|
Seizure, Motor stereotypy |
ORPHA:2479 |
| Early Infantile Epileptic Encephalopathy |
|
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Hyperac... |
ORPHA:1934 |
| Sarcoidosis |
|
Anemia, Hypercalciuria, Nephrolithiasis, Increased T cell count, Hemolytic anemia, Nephrocalcinos... |
ORPHA:797 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Renal insufficiency |
ORPHA:449432 |
| Van Esch-O'Driscoll Syndrome |
|
Seizure, Impulsivity, Excessive shyness, Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:301030 |
| Cystinosis |
|
Polydipsia, Motor stereotypy |
ORPHA:213 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess, Dysphagia |
OMIM:147060 |
| Niemann-Pick Disease, Type C2 |
|
Seizure, Dysphagia, Motor stereotypy |
OMIM:607625 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Low frustration tolerance, Seizure, Dysphagia, Motor stereotypy, Aggressive behavior |
ORPHA:319182 |
| Kleefstra Syndrome |
|
Seizure, Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressive behavior |
ORPHA:261494 |
| Nmda Receptor Encephalitis |
|
Agitation, Focal-onset seizure, Depression, Seizure, Generalized-onset seizure, Motor stereotypy,... |
ORPHA:217253 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Attention deficit hyperactivity disorder, Seizure, Self-mutilation, Motor stereotypy |
OMIM:619005 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Focal-onset seizure, Hyperactivity, Impulsivity, Bruxism, Aggressive behavior, Irritability, Agit... |
OMIM:619475 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Compulsive behaviors, Frequent temper tantrums, Bilateral tonic-clonic seizure, To... |
OMIM:619512 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Seizure, Bruxism, Hair-pulling |
ORPHA:48652 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Seizure, Polyphagia, Collectionism, Reduced social reciprocity, Motor stereotypy, ... |
ORPHA:96121 |
| Kinsship Syndrome |
|
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Mot... |
OMIM:619297 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Obsessive-compulsive trait, Urinary incontinence, Akinesia, Hyperactivity, Depression, Gait distu... |
OMIM:234200 |
| Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Seizure, Recurrent hand flapping, Motor stereotypy |
OMIM:615485 |
| Joubert Syndrome 6 |
|
Motor stereotypy |
OMIM:610688 |
| Helsmoortel-Van Der Aa Syndrome |
|
Irritability, Typical absence seizure, Hyperactivity, Seizure, Polyphagia, Compulsive behaviors, ... |
OMIM:615873 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Seizure, Depression, Aggressive behavior |
OMIM:612716 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Seizure, Motor stereotypy |
OMIM:610954 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Abnormal fear-induced behavior |
OMIM:219090 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... |
ORPHA:906 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Seizure, Bilateral tonic-clonic seizure, Motor stereotypy |
OMIM:301040 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia |
ORPHA:449563 |
| Cushing Disease |
|
Decreased eosinophil count, Depression, Emotional lability, Leukocytosis, Lymphopenia, Increased ... |
ORPHA:96253 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Seizure, Compulsive behaviors,... |
ORPHA:353281 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
| Viss Syndrome |
|
Hypereosinophilia, Hydronephrosis, Dysphagia |
OMIM:619472 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... |
ORPHA:513456 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Seizure, Multifocal seizures, Motor stereotypy, Aggressive behavior |
OMIM:301066 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Attention deficit hyperactivity disorder, Simple febrile seizure, Seizure, Motor stereotypy |
ORPHA:464311 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting |
ORPHA:522077 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Hyperactivity, Seizure, Impulsivity, Oppositional defiant disorder, Mot... |
ORPHA:580 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Motor ster... |
ORPHA:464306 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Motor stereotypy, Attention deficit hyper... |
OMIM:614756 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Focal-onset seizure, Infantile spasms, Seizure, Bilateral tonic-clonic seizure, Motor stereotypy,... |
OMIM:301044 |
| Cornelia De Lange Syndrome 6 |
|
Compulsive behaviors, Hair-pulling |
OMIM:620568 |
| Tropical Endomyocardial Fibrosis |
|
Eosinophilia, Splenomegaly |
ORPHA:75565 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Decreased eosinophil count, Depression, Emotional lability, Leukocytosis, Lymphopenia, ... |
ORPHA:99889 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Seizure, Motor stereotypy |
ORPHA:468631 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Seizure, Dysphagia, Motor stereotypy |
OMIM:617330 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Seizure, Compulsive behaviors,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear-induced behavior, Hyperactivity, Emotional lability, Seizure, Compulsive behaviors,... |
ORPHA:353277 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Seizure, Motor stereotypy |
OMIM:309590 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Depression, Seizure, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity diso... |
ORPHA:534 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Seizure, Motor stereotypy |
OMIM:616682 |
| Ogden Syndrome |
|
Irritability, Generalized-onset seizure, Bilateral tonic-clonic seizure, Dysphagia, Motor stereotypy |
OMIM:300855 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Motor stereotypy |
OMIM:618653 |
| Arboleda-Tham Syndrome |
|
Seizure, Dysphagia, Motor stereotypy |
OMIM:616268 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Dysphagia |
ORPHA:221 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Motor stereotyp... |
OMIM:612474 |
| 1P36 Deletion Syndrome |
|
Seizure, Polyphagia, Dysphagia, Motor stereotypy, Self-injurious behavior |
ORPHA:1606 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy |
ORPHA:508498 |
| Norrie Disease |
|
Irritability, Seizure, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious... |
ORPHA:649 |
| Lowe Oculocerebrorenal Syndrome |
|
Seizure, Motor stereotypy, Aggressive behavior |
OMIM:309000 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Seizure, Dysphagia, Motor stereotypy |
OMIM:619522 |
| Coffin-Siris Syndrome 12 |
|
Seizure, Motor stereotypy |
OMIM:619325 |
| Primrose Syndrome |
|
Seizure, Tics, Motor stereotypy, Restlessness, Attention deficit hyperactivity disorder, Self-inj... |
OMIM:259050 |
| Wolf-Hirschhorn Syndrome |
|
Seizure, Motor stereotypy |
OMIM:194190 |
| Mowat-Wilson Syndrome |
|
Focal-onset seizure, Seizure, Atypical absence seizure, Reduced social reciprocity, Dysphagia, Mo... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Focal-onset seizure, Seizure, Atypical absence seizure, Dysphagia, Motor stereotypy, Bruxism |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Focal-onset seizure, Seizure, Atypical absence seizure, Dysphagia, Motor stereotypy, Bruxism |
ORPHA:261552 |
