Autism, Susceptibility To, 20 |
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Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
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Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Chromosome 15Q11-Q13 Duplication Syndrome |
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Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Increased serum... |
OMIM:608636 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Autism |
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Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
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Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:607373 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Childhood Disintegrative Disorder |
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Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Hsd10 Disease |
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Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Impaired social interactions, Polyphagia |
ORPHA:329249 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Short attention span, Attention deficit hyperactivity disorder, Abnormal social behavior, Compuls... |
ORPHA:444002 |
Young-Onset Parkinson Disease |
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Restless legs, Short attention span, Impulsivity, Depression, Bradykinesia, Frontal lobe dementia... |
ORPHA:2828 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Metachromatic Leukodystrophy, Adult Form |
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Short attention span, Progressive psychomotor deterioration, Depression, Memory impairment, Progr... |
ORPHA:309271 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... |
ORPHA:309263 |
Childhood Absence Epilepsy |
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Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Memory i... |
ORPHA:314647 |
Niemann-Pick Disease Type C |
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Ataxia, Progressive neurologic deterioration, Aggressive behavior, Mental deterioration, Depressi... |
ORPHA:646 |
48,Xxxy Syndrome |
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Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... |
ORPHA:96263 |
Fg Syndrome Type 1 |
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Broad-based gait, Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive ... |
ORPHA:93932 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level |
OMIM:610600 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Inability to walk, Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or viol... |
ORPHA:1675 |
Late-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level |
ORPHA:556037 |
Early-Onset Familial Hypoaldosteronism |
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Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level |
ORPHA:556030 |
Prader-Willi Syndrome Due To Translocation |
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Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... |
ORPHA:177907 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased serum testosterone concentration, Decreased circulating cortisol level, Elevated circul... |
ORPHA:90793 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Abnormal circulating pregnenolone concentration, Decreased circulating cortisol level, Increased ... |
ORPHA:95699 |
Mend Syndrome |
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Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... |
ORPHA:363958 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Elevated circulating luteinizing hormone level, Abnormal circulating corticosterone level, Decrea... |
ORPHA:90796 |
Williams Syndrome |
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Ataxia, Dysmetria, Depression, Gait disturbance, Gait imbalance, Compulsive behaviors, Attention ... |
ORPHA:904 |