Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:607373 |
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 |
Rabies |
|
Fever, Attention deficit hyperactivity disorder, Anorexia, Depression |
ORPHA:770 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Imp... |
OMIM:608636 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Hereditary Central Diabetes Insipidus |
|
Fever, Irritability, Polydipsia, Weight loss |
ORPHA:30925 |
Chronic Hiccup |
|
Depression, Weight loss, Abnormal eating behavior |
ORPHA:396 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Mantle Cell Lymphoma |
|
Fever, Anorexia, Weight loss |
ORPHA:52416 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Kleine-Levin Syndrome |
|
Fever, Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypers... |
ORPHA:33543 |
Central Diabetes Insipidus |
|
Fever, Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive |
ORPHA:178029 |
Undifferentiated Pleomorphic Sarcoma |
|
Fever, Anorexia, Weight loss |
ORPHA:2023 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Impaired social interactions, Polyphagia |
ORPHA:329249 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... |
ORPHA:3077 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... |
ORPHA:444002 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:608049 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia |
OMIM:614963 |
Progressive Nodular Histiocytosis |
|
Fever, Cachexia |
ORPHA:158022 |
Marchiafava-Bignami Disease |
|
Fever, Confusion, Aggressive behavior, Depression, Dementia, Addictive alcohol use, Abnormal emot... |
ORPHA:221074 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abnormal soc... |
ORPHA:1020 |
Hsd10 Disease |
|
Short attention span, Abnormal social behavior, Dysphagia |
ORPHA:391417 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Postorgasmic Illness Syndrome |
|
Fever, Irritability, Depression |
ORPHA:279947 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappro... |
ORPHA:98794 |
Beta-Thalassemia |
|
Irritability, Abnormality of temperature regulation |
ORPHA:848 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
Fatal Familial Insomnia |
|
Weight loss, Fever, Dementia, Dysphagia |
OMIM:600072 |
Pfapa Syndrome |
|
Abnormality of temperature regulation, Weight loss |
ORPHA:42642 |
Serotonin Syndrome |
|
Fever, Restlessness, Confusion, Irritability, Agitation, Mental deterioration, Delirium |
ORPHA:43116 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Irritability |
OMIM:229700 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Emotional lability, Depression, Deme... |
ORPHA:309271 |
48,Xxxy Syndrome |
|
Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior, Abnorm... |
ORPHA:96263 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Fever, Increased circulating cortisol level |
OMIM:614674 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior, Progressive psychomotor deterioration, Short attent... |
ORPHA:309263 |
Aregenerative Anemia |
|
Fever, Depression, Dementia, Cognitive impairment, Emotional lability |
ORPHA:101096 |
Letterer-Siwe Disease |
|
Fever, Irritability |
OMIM:246400 |
Spinocerebellar Ataxia Type 3 |
|
Abnormality of temperature regulation |
ORPHA:98757 |
Machado-Joseph Disease Type 1 |
|
Memory impairment, Abnormality of temperature regulation, Dysphagia |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Memory impairment, Abnormality of temperature regulation, Dysphagia |
ORPHA:276241 |
Machado-Joseph Disease Type 3 |
|
Memory impairment, Abnormality of temperature regulation, Dysphagia |
ORPHA:276244 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Fg Syndrome Type 1 |
|
Attention deficit hyperactivity disorder, Abnormal social behavior, Slender build, Compulsive beh... |
ORPHA:93932 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Obesity, Hypothermia |
OMIM:618493 |
Prader-Willi Syndrome Due To Translocation |
|
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... |
ORPHA:177907 |
Joubert Syndrome 35 |
|
Abnormality of temperature regulation |
OMIM:618161 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depression, Deme... |
ORPHA:646 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Deeah Syndrome |
|
Abnormality of temperature regulation, Dysphagia, Decreased circulating free T4 concentration, De... |
OMIM:619004 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Abnormality of temperature regulation |
OMIM:619173 |
Mend Syndrome |
|
Failure to thrive, Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Stuve-Wiedemann Syndrome 1 |
|
Fever, Abnormality of temperature regulation, Recurrent fever, Dysphagia |
OMIM:601559 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior, Aggressive behavior |
ORPHA:314647 |
Cockayne Syndrome Type 1 |
|
Failure to thrive, Abnormality of temperature regulation |
ORPHA:90321 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353277 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Inappropriate laughter, Attention deficit hyperactivity disorder, Abno... |
ORPHA:363958 |
Ulnar-Mammary Syndrome |
|
Abnormality of temperature regulation, Obesity |
ORPHA:3138 |
Chronic Mucocutaneous Candidiasis |
|
Abnormality of temperature regulation |
ORPHA:1334 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of temperature regulation, Dementia, Mental deterioration, Failure to thrive, Heat in... |
ORPHA:2273 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation |
OMIM:209880 |
Williams Syndrome |
|
Failure to thrive in infancy, Obesity, Depression, Compulsive behaviors, Attention deficit hypera... |
ORPHA:904 |
Acute Transverse Myelitis |
|
Fever, Abnormality of temperature regulation |
ORPHA:139417 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of temperature regulation |
ORPHA:667 |