| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:209850 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Impaired ability to form peer relationships... |
OMIM:608636 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Emotional lab... |
OMIM:617171 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
| 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 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic seizure, ... |
OMIM:617113 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
| Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Irritability, Hyperactivity, Generalized-onset seizure, Seizure |
OMIM:616657 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Seizure, Inappropriate ... |
OMIM:619150 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
| Hartnup Disorder |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Emotional lability, Generalized... |
OMIM:234500 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Seizure, Abnormal repetitive m... |
OMIM:608049 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Myoclonu... |
ORPHA:2382 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| 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 Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Developmental And Epileptic Encephalopathy 58 |
|
Seizure, Abnormal repetitive mannerisms, Status epilepticus |
OMIM:617830 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... |
ORPHA:66624 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Seizure, Myoclonus |
OMIM:605899 |
| Pick Disease Of Brain |
|
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... |
OMIM:172700 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
| Landau-Kleffner Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... |
ORPHA:98818 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:617820 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
ORPHA:599373 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Irritability, Seizure, Abnormal repetitive ... |
OMIM:617393 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Clonic seizure |
OMIM:615282 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Dysphagia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Dysphagia |
OMIM:613412 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Dysphagia |
OMIM:617862 |
| N-Acetylaspartate Deficiency |
|
Seizure, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Seizure, Impaired social interactions, Stereotypical hand wringing |
ORPHA:397933 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
| Microcephaly, Seizures, And Developmental Delay |
|
Seizure, Hyperactivity |
OMIM:613402 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... |
OMIM:610042 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
| Hyperlysinemia, Type I |
|
Seizure, Hyperactivity |
OMIM:238700 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavior, Seiz... |
ORPHA:382 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Focal-onset seizure, Self-injuriou... |
OMIM:618917 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
| Mannosidosis, Beta A, Lysosomal |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors |
OMIM:301107 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Seizure, Bruxism, Abnormal repetitive mannerisms, Paroxys... |
OMIM:618718 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Myoclonus, Abnormal rep... |
OMIM:600795 |
| Childhood Disintegrative Disorder |
|
Seizure, Abnormal repetitive mannerisms, Abnormal emotion, Impaired social interactions |
ORPHA:168782 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Seizure, Hyperactivity |
OMIM:300928 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
| Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Seizure, Hyperactivity |
ORPHA:85288 |
| Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclo... |
ORPHA:561854 |
| Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Seizure, Hyperactivity, Bruxism |
OMIM:300434 |
| Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h... |
ORPHA:64280 |
| Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atonic seizure, Oral-pharyngeal dyspha... |
ORPHA:208447 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617600 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absenc... |
OMIM:271980 |
| Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Hyperactivity, Repeated focal motor seizures, Bilateral tonic-cloni... |
ORPHA:1929 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Myoclonic seizure |
OMIM:619690 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Seizu... |
ORPHA:3077 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Seizure, Attention deficit hyperact... |
OMIM:261600 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... |
OMIM:618497 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Epileptic spasm, Myoclonic seizure, Self-injurious behavior, Seizure, Focal impaired awareness se... |
OMIM:614254 |
| Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Seizure, Febrile seizure (within the age range of 3 months to... |
OMIM:615516 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Emotional lability, Disinhibition, Dysphagia |
OMIM:612069 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Generalized myoclonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:618090 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:300983 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Difficulty walking |
OMIM:253600 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphop... |
ORPHA:169160 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Seizure, Hyperactivity, Myoclonus |
OMIM:615924 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious behavior, Irritability, S... |
ORPHA:449291 |
| Xq25 Microduplication Syndrome |
|
Seizure, Hyperactivity |
ORPHA:521258 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Seizure, Aggressive behavior |
OMIM:618362 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Seizure, Hyperactivity |
OMIM:617169 |
| Shukla-Vernon Syndrome |
|
Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Abnormal rep... |
OMIM:301029 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized... |
ORPHA:485350 |
| Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
| Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Seizure, Agitation, Focal impaired awareness seizure, Dysphagia, Abnormal repetitive man... |
OMIM:617435 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Dysphagia |
ORPHA:2070 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Seizure, Compulsive beha... |
OMIM:619467 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Seizure, Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behaviors |
OMIM:620021 |
| Morm Syndrome |
|
Hyperactivity, Micropenis, Aggressive behavior |
ORPHA:75858 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Depression, Attention deficit hyperac... |
ORPHA:98784 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity, Bilateral tonic-clonic seizure |
OMIM:609924 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Focal-onset s... |
ORPHA:168491 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic seizure,... |
OMIM:619580 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Seizure, Inappropriate laughter, Febrile seizure (within the age range of 3 months... |
OMIM:614104 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple feb... |
ORPHA:1942 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Seizure, Abnormal repetitive mannerisms, Shyness |
ORPHA:280763 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Seizure, Hyperactivity |
OMIM:274270 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Seizure, Polyphagia, Paro... |
ORPHA:228402 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Nocturnal seizures, Myoclonus, Attention deficit hyperactivity di... |
OMIM:619725 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Seizure, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive m... |
ORPHA:530983 |
| Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
| Juvenile Huntington Disease |
|
Hyperactivity, Depression, Irritability, Seizure, Myoclonus |
ORPHA:248111 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non... |
OMIM:300558 |
| Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile... |
OMIM:619913 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Chromosome Xq25 Duplication Syndrome |
|
Seizure, Hyperactivity |
OMIM:300979 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Seizure, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attention deficit hyperactivi... |
OMIM:620242 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Seizure, Compulsive behaviors, Attention deficit h... |
ORPHA:352490 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Atonic seizure, Generalized non-motor (absence) seizure, Focal impaired awarene... |
ORPHA:411986 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Myoclonic seizure, My... |
OMIM:619092 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:612716 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Obsessive-compulsive trai... |
OMIM:618825 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Membranous nephropathy, Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
| Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Gand Syndrome |
|
Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic ... |
OMIM:304790 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:85277 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Roifman Syndrome |
|
Splenomegaly, Eosinophilia |
OMIM:616651 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Seizure, Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
| Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
| Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Nephrotic syndrome, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Nephrolithiasis, Choreoathetosis, Self-inj... |
OMIM:620023 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Tonic seizure... |
OMIM:300912 |
| Xq28 (MECP2) duplication |
|
Depression, Seizure, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
| Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:619877 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r... |
OMIM:617695 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Pgm3-Cdg |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Ataxia, Abnormal proportion of CD8-po... |
ORPHA:443811 |
| Galloway-Mowat Syndrome 6 |
|
Seizure, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter |
OMIM:618347 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Seizure |
ORPHA:309246 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:619428 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Houge-Janssens Syndrome 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:618354 |
| Christianson Syndrome |
|
Generalized-onset seizure, Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia |
ORPHA:85278 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... |
ORPHA:313892 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Depression, Seizure, Myoclonic spasms, Dysphagia, Emotional labil... |
ORPHA:79264 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Skin-picking, Abnormal repe... |
OMIM:600430 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Depression, Seizure, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Seizure, Hyperactivity, Impulsivity |
OMIM:300143 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
| Fragile X Syndrome |
|
Seizure, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Seizure, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Ataxia, Abscess, Eosinophilia, Neutro... |
OMIM:615816 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Dysphagia |
ORPHA:500180 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Proteinuria, Eosinophilia, Hematuria, Tubulointerstitial nephritis, Gait dis... |
ORPHA:183 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Infantile spasms, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal r... |
OMIM:616393 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... |
ORPHA:33543 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Seizure, Hyperactivity, Infantile spasms, Tonic seizure |
OMIM:619239 |
| 5Q14.3 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:228384 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Head-banging, Seizure, Onychotillomania, Abnormal repetitive manneri... |
OMIM:182290 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Myoc... |
ORPHA:447997 |
| Hijazi-Reis Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:301094 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Seizure, Abnormal repetitive mannerisms |
ORPHA:3306 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis |
ORPHA:449400 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia |
ORPHA:293173 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Focal-onset ... |
ORPHA:163681 |
| Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Seizure, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r... |
OMIM:618342 |
| Alazami Syndrome |
|
Abnormal eating behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical... |
ORPHA:319671 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Myoclonic seizure, Abnormal repetitive mannerisms, Infantile spasms, Dysphagia |
ORPHA:572013 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:613443 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tonic seizure, Repetitive compulsive behavior, Bruxism, Generalized non-motor (absence) seizure, ... |
OMIM:300260 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphocytosis |
ORPHA:139402 |
| Potocki-Lupski Syndrome |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
OMIM:610883 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Horseshoe kid... |
ORPHA:508533 |
| Cystic Echinococcosis |
|
Eosinophilia, Abscess, Renal cyst, Membranous nephropathy, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th... |
OMIM:102700 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
| Cln5 Disease |
|
Hyperactivity, Generalized-onset seizure, Aggressive behavior, Focal-onset seizure, Seizure, Obse... |
ORPHA:228360 |
| Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia |
ORPHA:199299 |
| Pilarowski-Bjornsson Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
| Angiostrongyliasis |
|
Irritability, Hypereosinophilia |
ORPHA:74 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Seizure, Status epilepticus, Bruxism, Abnormal repetitive mannerisms |
OMIM:618004 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Seizure, Compulsive behaviors, Abnormal repetitive mannerisms |
OMIM:618430 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Emotional lability, Agitation, Abnormal repetitive mannerisms, Seizure |
ORPHA:927 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Renal insufficiency, Eosinophilia, Glomerulonephrit... |
ORPHA:3261 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, ... |
OMIM:300986 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Focal-onset seizure, Seizure, Status epilepticus, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617802 |
| Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Seizure, Inappropriate laughter, Myocl... |
ORPHA:98794 |
| Developmental And Epileptic Encephalopathy 2 |
|
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Seizure, Myoclonus, Generalized... |
OMIM:300672 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Pica, Irritability, Seizure, Obsessive-compulsive trait, Abnormal repetitive manne... |
OMIM:617796 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
| Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Irritability, Seizure, Impaired social interactions, Bruxism, Abnormal repetiti... |
OMIM:613454 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Seizure, Recurrent hand flapping, Agitation, Bruxism |
OMIM:617903 |
| Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Renal cyst, Abnormal spleen morphology, Anemia, Cutaneous ab... |
ORPHA:284 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Seizure, Inappropriate laughter, Myoclonus, Self-mutilation |
OMIM:103050 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms |
ORPHA:238750 |
| Incontinentia Pigmenti |
|
Gait disturbance, Eosinophilia, Attention deficit hyperactivity disorder |
ORPHA:464 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
| Snijders Blok-Campeau Syndrome |
|
Abnormal repetitive mannerisms, Infantile spasms, Attention deficit hyperactivity disorder, Myocl... |
OMIM:618205 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
| 48,Xxyy Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression |
ORPHA:10 |
| Angelman Syndrome |
|
Hyperactivity, Generalized myoclonic seizure, Atonic seizure, Aggressive behavior, Infantile spas... |
ORPHA:72 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Seizure, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal repetitive... |
OMIM:619293 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Incr... |
ORPHA:100924 |
| 22Q11.2 Duplication Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... |
ORPHA:1727 |
| Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
| Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Focal-onset seizure, Dysphagia,... |
OMIM:619435 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Eosinophilia, Dysphagia |
ORPHA:449427 |
| 47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Seizure, Impaired social interactions, Attention deficit hyperactivit... |
ORPHA:8 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behav... |
OMIM:615656 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Generalized-onset seizure, Abnormal repetitive mannerisms |
OMIM:617807 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Seizure, Compulsive behaviors, Dysphagia, Attention... |
OMIM:617061 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
| Progressive Supranuclear Palsy |
|
Depression, Abnormal synaptic transmission, Impulsivity, Dysphagia |
ORPHA:683 |
| Mucopolysaccharidosis, Type Iiib |
|
Seizure, Hyperactivity, Aggressive behavior |
OMIM:252920 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Aggressive behavior, Gait disturbance, Disinhibition, Attentio... |
ORPHA:43 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aggressive behavior, Seizure, Impaired social interactions, Attention deficit hyperactivity disor... |
OMIM:300352 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Seizure, Attention deficit hyperactivity disorder, Frequent temper tantrums, Abnorm... |
OMIM:619103 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Seizure, Compulsive beh... |
ORPHA:401777 |
| Mucoepithelial Dysplasia, Hereditary |
|
Hematuria, Eosinophilia |
OMIM:158310 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Seizure, Low frustration tolerance, Impaired social interacti... |
OMIM:309520 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... |
ORPHA:760 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Self-i... |
ORPHA:457351 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Generalized non-motor (absence) seizure, Abnormal repetitive mannerisms, Inappropriate laughter, ... |
OMIM:615802 |
| Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Oppositional... |
OMIM:123450 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperact... |
ORPHA:261197 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Generalized clonic seizure, Focal-onset seizure, Focal myoclonic seizure, Generalized non-motor (... |
OMIM:619229 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal repetitive manne... |
OMIM:620073 |
| 3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Attention deficit hypera... |
ORPHA:435638 |
| Rett Syndrome |
|
Seizure, Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:778 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Eosinophilia, Leukocytosis, Horseshoe kidney, Hepatosplenomegaly, Anemia, V... |
OMIM:274000 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Urinary urgency, Urinary hesitancy, Nocturia |
OMIM:609727 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:500159 |
| Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Dysphagia, A... |
OMIM:619312 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:261144 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Eosinophilia, Urinary bladder inflammation, Chronic kidney dise... |
ORPHA:449395 |
| White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Hypoglycemic seizures, Self-injurious behavior, Irritability,... |
OMIM:616364 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Hypereosinophilia, Hematuria, Nephrotic syndrome, Urethral obstr... |
ORPHA:2035 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Bilateral tonic-c... |
ORPHA:2388 |
| Histidinemia |
|
Histidinuria, Hyperactivity |
ORPHA:2157 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Seizure, Attention deficit hyperactivity disorder, Compulsive behaviors, Abn... |
ORPHA:476126 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... |
OMIM:619777 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity... |
ORPHA:819 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Focal-onset seizure, Delayed early-childhood social milestone development, Seizure, Impaired soci... |
ORPHA:300570 |
| Phelan-Mcdermid Syndrome |
|
Aggressive behavior, Tongue thrusting, Seizure, Impaired social interactions, Bruxism, Abnormal r... |
OMIM:606232 |
| Kleefstra Syndrome 1 |
|
Seizure, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
| Coccidioidomycosis |
|
Renal insufficiency, Eosinophilia, Abscess, Abnormality of the spleen, Granuloma |
ORPHA:228123 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Seizure |
OMIM:620047 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619121 |
| 2Q37 Microdeletion Syndrome |
|
Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... |
ORPHA:1001 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Seizure, Low frustration tolerance, Abnormal temper tantrums, Abnormal repet... |
ORPHA:457279 |
| Argininemia |
|
Irritability, Hyperactivity, Seizure, Anorexia |
OMIM:207800 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Bilateral tonic-clonic seizure, Aggressive behavior, Hair-pulling, Polyphagia, Gener... |
OMIM:620330 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
| White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Seizure, Focal impaired awareness se... |
ORPHA:468678 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Epileptic spasm, Impulsivity, Aggressive behavior, Infantile spasms, Repetitive co... |
ORPHA:805 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Seizure, Dysphagia, Emotional lability |
OMIM:610217 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Seizure, Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand... |
OMIM:212066 |
| Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Dysphagia, Febrile seizure (within the age range of 3 months to 6... |
ORPHA:496641 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Seizure, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... |
ORPHA:177907 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Head-banging, Self-injurious behavior, Seizure, Attention deficit hyperactivity disorder, Frequen... |
OMIM:619575 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
| Megalocornea-Intellectual Disability Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
ORPHA:2479 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia |
ORPHA:449432 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Foca... |
ORPHA:1934 |
| Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Eosinophilia, Increased T cell count, Nephrolithiasis, Hyp... |
ORPHA:797 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Shyness, Seizure, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
OMIM:301030 |
| Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
| Niemann-Pick Disease, Type C2 |
|
Seizure, Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure, Low frustration tolerance, Dysphagia, Abnormal repet... |
ORPHA:319182 |
| Nmda Receptor Encephalitis |
|
Generalized-onset seizure, Hypersexuality, Focal-onset seizure, Depression, Seizure, Agitation, M... |
ORPHA:217253 |
| Kleefstra Syndrome |
|
Aggressive behavior, Self-injurious behavior, Seizure, Abnormal repetitive mannerisms, Self-mutil... |
ORPHA:261494 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonic seizure, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior,... |
OMIM:619475 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Seizure, Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder |
OMIM:619005 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Acanthocytosis, Phonic tics, Depression, C... |
OMIM:234200 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Self-injurious b... |
OMIM:619512 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Seizure, ... |
ORPHA:96121 |
| Kinsship Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619297 |
| Monosomy 22Q13.3 |
|
Hair-pulling, Hyperactivity, Seizure, Bruxism |
ORPHA:48652 |
| Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms, Seizure |
OMIM:615485 |
| Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Tonic seizure, Abnormal repetitive mannerisms, Typical absence seizure, Bruxism, I... |
OMIM:615873 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms |
OMIM:610954 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia |
ORPHA:449563 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic seizure |
OMIM:301040 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Cushing Disease |
|
Increased urinary cortisol level, Leukocytosis, Depression, Decreased eosinophil count, Emotional... |
ORPHA:96253 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non-motor (absence) s... |
ORPHA:513456 |
| Viss Syndrome |
|
Hypereosinophilia, Hydronephrosis, Dysphagia |
OMIM:619472 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Seizure, Multifocal seizures, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:301066 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Seizure, Abnormal repetitive mannerisms, Simple febrile seizure, Attention deficit hyperactivity ... |
ORPHA:464311 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting |
ORPHA:522077 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, Hyperactivity, Abnormal r... |
ORPHA:464306 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized myoclonic-atonic ... |
OMIM:614756 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Abnormal temper tantrums, Abnormal repe... |
ORPHA:580 |
| Primary Sclerosing Cholangitis |
|
Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Depression... |
ORPHA:171 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia |
ORPHA:75565 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu... |
OMIM:301044 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Anorexia, Leukocytosis, Depression, Decreased eosinophil count,... |
ORPHA:99889 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Seizure, Abnormal repetitive mannerisms |
ORPHA:468631 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617330 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Depression, Self-injurious behavior, Seizure, Compulsive behaviors, Attention deficit hyperactivi... |
ORPHA:534 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:616682 |
| Ogden Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Irritability, Dysphagia, Abnormal repe... |
OMIM:300855 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms |
OMIM:618653 |
| Arboleda-Tham Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Dysphagia |
OMIM:616268 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Self-injurious behavior,... |
OMIM:612474 |
| Norrie Disease |
|
Self-injurious behavior, Seizure, Irritability, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:649 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
| 1P36 Deletion Syndrome |
|
Polyphagia, Self-injurious behavior, Seizure, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:1606 |
| Lowe Oculocerebrorenal Syndrome |
|
Seizure, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
| Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:619522 |
| Coffin-Siris Syndrome 12 |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:619325 |
| Primrose Syndrome |
|
Restlessness, Aggressive behavior, Self-injurious behavior, Seizure, Tics, Attention deficit hype... |
OMIM:259050 |
| Wolf-Hirschhorn Syndrome |
|
Seizure, Abnormal repetitive mannerisms |
OMIM:194190 |
| Mowat-Wilson Syndrome |
|
Focal-onset seizure, Bruxism, Dysphagia, Seizure, Status epilepticus, Atypical absence seizure, I... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Focal-onset seizure, Bruxism, Seizure, Atypical absence seizure, Dysphagia, Abnormal repetitive m... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Focal-onset seizure, Bruxism, Seizure, Atypical absence seizure, Dysphagia, Abnormal repetitive m... |
ORPHA:261552 |
