| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Autism, Susceptibility To, 20 |
|
Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness |
OMIM:618221 |
| 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 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Irritability, Deme... |
OMIM:600274 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Motor neuron atrophy, Frontotemporal dementia, Inappropriate behavior, Fall... |
ORPHA:412066 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly |
OMIM:618982 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc |
OMIM:601979 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... |
ORPHA:101039 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Hsd10 Disease |
|
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... |
ORPHA:444002 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Decreased serum zinc, Irritability, Ataxia |
OMIM:201100 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... |
OMIM:615559 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal fear-induced behavior, Abnormal circulating porph... |
ORPHA:100924 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Depression, Decreased circulating carnitine concentration, Decreased serum ... |
ORPHA:89842 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
| Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Increased B cell count |
ORPHA:98813 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Slc39A8-Cdg |
|
Inability to walk, Hypomanganesemia, Abnormal blood zinc concentration |
ORPHA:468699 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Decreased serum zinc |
ORPHA:541423 |
| Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Progr... |
ORPHA:309271 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... |
ORPHA:309263 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
| Beta-Thalassemia |
|
Irritability, Abnormality of iron homeostasis |
ORPHA:848 |
| 48,Xxxy Syndrome |
|
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Depression, Decreased plasma total carnitine, Decreased serum zinc, Dysphagia, Abnormal circulati... |
ORPHA:79408 |
| Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Dysphagi... |
ORPHA:646 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:93932 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... |
ORPHA:314647 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
| Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Compulsive behaviors, Attention deficit hyperactivity disorder, Impaired social int... |
ORPHA:177907 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
| Mend Syndrome |
|
Hyperactivity, Aggressive behavior, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abn... |
ORPHA:401973 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Ataxia, Hypercalcemia, Elevated circulating creatine ki... |
ORPHA:904 |
