| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity, Short attention span |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity, Short attention span |
OMIM:608443 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy |
OMIM:616126 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... |
ORPHA:411527 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:619126 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... |
OMIM:305390 |
| Glycine Encephalopathy 1 |
|
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior |
OMIM:605899 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... |
ORPHA:891 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability |
OMIM:234500 |
| Exudative Vitreoretinopathy 1 |
|
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... |
OMIM:133780 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
| Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... |
OMIM:608850 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
| Landau-Kleffner Syndrome |
|
Memory impairment, Hyperactivity, Depression, Emotional lability, Short attention span, Impulsivi... |
ORPHA:98818 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
| Eales Disease |
|
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... |
ORPHA:40923 |
| Phenylketonuria |
|
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... |
OMIM:261600 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Memory impairment, Hyperactivity, Attention deficit hyperact... |
OMIM:619827 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Diminished ability to concentrate, Self-mutilation, Aggre... |
OMIM:615516 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... |
ORPHA:3077 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... |
OMIM:193220 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... |
OMIM:602450 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Short... |
ORPHA:449291 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Irritability, Retinal neovascularization, Memory impairment, Depression, Retinal cotton wool spot... |
ORPHA:247691 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Progressive language deterioration, Motor stereotypy, Attention deficit hyperactiv... |
OMIM:610042 |
| Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Hyperactivity, Emotional lability, Short attention span, Impulsivity, Dysphagia, M... |
OMIM:610217 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Lymph node hypoplasia |
ORPHA:276 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Splenomegaly |
OMIM:613179 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Obsessive-compulsive trait, Optic atrophy, Dementia, Hyperactivity, Depression, Mental deteriorat... |
OMIM:234200 |
| Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia |
OMIM:300755 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Jaberi-Elahi Syndrome |
|
Optic atrophy |
OMIM:617988 |
