Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Abnormal neuron morphology, Apathy, Bradyk... |
ORPHA:412066 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Shyness, Gait ataxia, Attention deficit hyperactivity disorder |
OMIM:618221 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior, Hyperactivity |
ORPHA:436151 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Impaired social interactions, Mental deteriorati... |
ORPHA:168782 |
Early-Onset Schizophrenia |
|
Shyness, No social interaction, Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive i... |
ORPHA:96369 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells |
OMIM:618982 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Huntington Disease-Like 2 |
|
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
Juvenile Huntington Disease |
|
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ata... |
ORPHA:248111 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Hype... |
OMIM:261600 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Dopa-Responsive Dystonia |
|
Panic attack, Gait disturbance, Dystonia, Arm dystonia, Agoraphobia, Inability to walk, Irritabil... |
ORPHA:255 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia, Poor eye contact |
OMIM:300983 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc |
OMIM:601979 |
Lennox-Gastaut Syndrome |
|
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration |
ORPHA:2382 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... |
ORPHA:98818 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration |
OMIM:615924 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety |
ORPHA:101039 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Poor eye contact |
ORPHA:444002 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Abnormal neuron morphology, Aggressive behavior, Self-mutilation, Poor eye contact,... |
ORPHA:163681 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Decreased proportion of class-switched memory B cells, Splenomegaly, Incr... |
OMIM:615559 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Aggressive behavior, Hyperactivity, Ataxia, Transient hyperphenylalaninemia |
OMIM:612716 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Elevated circulating gamma-a... |
OMIM:271980 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Semantic dementia, Ataxia, Disinhibition, Abnormal social behavior, Memory impairment |
ORPHA:1020 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... |
OMIM:610042 |
Hyperlysinemia, Type I |
|
Hyperactivity, Cognitive impairment, Hyperlysinemia |
OMIM:238700 |
Aceruloplasminemia |
|
Dystonia, Decreased circulating copper concentration, Aceruloplasminemia, Elevated hepatic iron c... |
ORPHA:48818 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... |
ORPHA:1929 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Decreased serum iron, Abnormal circulating selenium concentration, Hypoalbu... |
ORPHA:89842 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Attention deficit hypera... |
ORPHA:449291 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:411515 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... |
ORPHA:485350 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:301013 |
Hsd10 Disease |
|
Abnormal social behavior, Gait disturbance, Ataxia |
ORPHA:391417 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter |
OMIM:618718 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Inappropriate sexual behav... |
ORPHA:43 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Slc39A8-Cdg |
|
Dystonia, Inability to walk, Abnormal blood zinc concentration, Hypomanganesemia |
ORPHA:468699 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Childhood Absence Epilepsy |
|
Low self esteem, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Dep... |
ORPHA:64280 |
Myoclonic-Astatic Epilepsy |
|
Lack of peer relationships, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Unst... |
ORPHA:1942 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia |
ORPHA:500180 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Hyperactivity, Inability to... |
ORPHA:168491 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphocytopenia, Thro... |
OMIM:603554 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Psychomotor deterioration, Hyperactivity, Ataxia, Emotional lability,... |
ORPHA:35069 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Hypertriglyce... |
ORPHA:363400 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Aggressive behavior, Self-mutilation, Poor eye contact, Inappropriate laughter, H... |
OMIM:103050 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Anxiety, Aggressive behavior |
OMIM:300558 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis |
OMIM:231100 |
Lysinuric Protein Intolerance |
|
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... |
ORPHA:470 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Decreased serum zinc |
ORPHA:541423 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Depression, Bipolar affecti... |
OMIM:601853 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Progressive psychomotor deterioration, Dementia, Progressive gait ataxia, Emotional lab... |
ORPHA:309271 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Elevated circulating creatine kinase concentration, Hyperactivity, Aggressive behavior |
OMIM:616809 |
Fragile X Syndrome |
|
Hyperactivity, Poor eye contact |
OMIM:300624 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... |
ORPHA:247585 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsi... |
OMIM:610217 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Abnormal circulating copper concentration |
OMIM:121270 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Hyperactivity, Ataxia |
ORPHA:530983 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Abnormal circulating creatine concentration, Self-mutilation, Hyperactivity,... |
ORPHA:52503 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia |
OMIM:614104 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Dystonia, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional lability, Abn... |
ORPHA:309263 |
Cri-Du-Chat Syndrome |
|
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Overfriendl... |
OMIM:123450 |
Mednik Syndrome |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration |
ORPHA:171851 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... |
ORPHA:2442 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:369939 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia |
ORPHA:228402 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration |
OMIM:252920 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Progressive gait ataxia, Emotional lability, Tip-toe gait, Abnormal social behavior, Ga... |
ORPHA:309256 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia |
OMIM:300354 |
Smith-Magenis Syndrome |
|
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Head-banging |
OMIM:182290 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Impaired socia... |
OMIM:309520 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
ORPHA:3261 |
47,Xyy Syndrome |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impaired social interactions, Impulsivity |
ORPHA:8 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Irritability |
ORPHA:848 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia, Hyperactivity, Poor eye contact |
OMIM:610883 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Decreased serum zinc, Abnormal circulating selenium concentration, Decreased plasma total carniti... |
ORPHA:79408 |
Niemann-Pick Disease Type C |
|
Gait disturbance, Dystonia, Dementia, Axial dystonia, Bipolar affective disorder, Aggressive beha... |
ORPHA:646 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Anxiety, Aggressive behavior, Ataxia |
OMIM:618430 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Overfriendliness, Hyperactivity, Aggressive behavior, Ataxia |
ORPHA:369891 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Angelman Syndrome |
|
Happy demeanor, Self-injurious behavior, Aggressive behavior, Poor eye contact, Inappropriate lau... |
ORPHA:72 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extremely elevated ... |
OMIM:615673 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactivity, Inabil... |
ORPHA:139396 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... |
OMIM:102700 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Happy demeanor, Gait imbalance, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:98794 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Self-mutilation, Low frustration tolerance, Inappropriate laughter |
ORPHA:363686 |
Choreoacanthocytosis |
|
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... |
ORPHA:2388 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Poor eye contact, Hyperactivity, Ataxia, Anxiety, Impaired soci... |
OMIM:300912 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia |
OMIM:300486 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Apathy, Elevated transferrin saturation, Increased circulating f... |
ORPHA:465508 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Self-mutilation |
ORPHA:412035 |
Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Dysmetria, Aggressive behavior, Ataxia, Nonprogressive cerebellar ataxia, Abnormal social behavio... |
ORPHA:314647 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
48,Xxxy Syndrome |
|
Attention deficit hyperactivity disorder, Irritability, Abnormal social behavior, Anxiety, Abnorm... |
ORPHA:96263 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Argininemia |
|
Spastic gait, Hyperammonemia, Hyperactivity, Irritability, Hyperargininemia |
OMIM:207800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Gait disturbance, Dementia, Bradykinesia, Depression, Hyperactivity, Ataxia, Akinesia, ... |
OMIM:234200 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Steppage gait, Abnormal circulating copper concentration |
ORPHA:521411 |
Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Motor deterioration |
OMIM:252930 |
Prader-Willi Syndrome Due To Translocation |
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Skin-picking, Happy demeanor, Attention deficit hyperactivity disorder, Abnormal social behavior,... |
ORPHA:177907 |
Fg Syndrome Type 1 |
|
Abnormal social behavior, Attention deficit hyperactivity disorder, Broad-based gait |
ORPHA:93932 |
Tuberous Sclerosis Complex |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavio... |
ORPHA:805 |
Mend Syndrome |
|
Elevated 8(9)-cholestenol, Aggressive behavior, Elevated 8-dehydrocholesterol, Hyperactivity, Abn... |
ORPHA:401973 |
7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Dysmetria, Aggressive behavior, Hyperactivity, Unsteady gait, Anxiety, I... |
ORPHA:96121 |
Wiedemann-Steiner Syndrome |
|
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety |
ORPHA:319182 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Neonatal hyperbilirubinemia |
OMIM:609727 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Dystonia, Violent behavior, Torticollis, Suicidal ideation, Aggressive behavior, Cognitive impair... |
OMIM:619475 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior, Inability to walk, Abnormal aggressive, impulsive or violent behavior, ... |
ORPHA:1675 |
Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Progressive neurologic deter... |
ORPHA:581 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Hyperactivity, Ataxia |
ORPHA:760 |
Joubert Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Self-mutilation, Ataxia |
OMIM:213300 |
Legius Syndrome |
|
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder, Cognitive impairment |
ORPHA:137605 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Histidinemia |
|
Hyperhistidinemia, Hyperactivity |
ORPHA:2157 |
Mucopolysaccharidosis Type 2 |
|
Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Hyperactivity, I... |
ORPHA:580 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Inappropriate laughter, Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Inappropriate laughter, Overfriendliness, Anxiety, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363958 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability |
ORPHA:447997 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353277 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Early Infantile Epileptic Encephalopathy |
|
Self-injurious behavior, Dystonia, Hyperactivity, Episodic ataxia |
ORPHA:1934 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... |
ORPHA:642 |
Williams Syndrome |
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Gait disturbance, Hypercalcemia, Gait imbalance, Dysmetria, Abnormal circulating lipid concentrat... |
ORPHA:904 |