Chromosome 15Q11-Q13 Duplication Syndrome |
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Increased serum serotonin, Restrictive behavior, Impaired ability to form peer relationships, Inf... |
OMIM:608636 |
Autism, Susceptibility To, 20 |
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Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
Autism |
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Increased serum serotonin, Impaired ability to form peer relationships, Restrictive behavior, Inf... |
OMIM:209850 |
Autism, Susceptibility To, 8 |
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Increased serum serotonin, Impaired ability to form peer relationships, Restrictive behavior, Inf... |
OMIM:607373 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Pachygyria, Motor stereotypy, Reduced social reciprocity, Inability to walk |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
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Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness |
OMIM:618221 |
Asperger Syndrome, Susceptibility To, 1 |
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Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
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Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608631 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
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Aggressive behavior, Reduced social reciprocity |
OMIM:618103 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Aggressive behavior, Hyperinsulinemia, Polyphagia, Reduced social reciprocity |
ORPHA:329249 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
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Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Autism, Susceptibility To, 3 |
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Increased serum serotonin, Impaired ability to form peer relationships, Restrictive behavior, Inf... |
OMIM:608049 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
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Inability to walk, Self-injurious behavior, Motor stereotypy, Reduced social reciprocity |
OMIM:617820 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... |
ORPHA:101039 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
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Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing |
ORPHA:397933 |
Hsd10 Disease |
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Gait disturbance, Ataxia, Dysphagia, Choreoathetosis, Abnormal social behavior |
ORPHA:391417 |
Foxg1 Syndrome |
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Difficulty walking, Inability to walk, Bruxism, Reduced social reciprocity, Stereotypical hand wr... |
ORPHA:561854 |
X-Linked Intellectual Disability, Van Esch Type |
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Male hypogonadism, Absence of secondary sex characteristics, Decreased serum testosterone concent... |
ORPHA:163976 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
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Attention deficit hyperactivity disorder, Reduced social reciprocity, Ataxia |
ORPHA:137831 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:444002 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
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Reduced social reciprocity |
OMIM:611092 |
Atypical Rett Syndrome |
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Restrictive behavior, Inability to walk, Bruxism, Inappropriate laughter, Gait ataxia, Reduced so... |
ORPHA:3095 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
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Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec... |
ORPHA:544254 |
Lamb-Shaffer Syndrome |
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Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy, Abnormal social behavior |
ORPHA:530983 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Aggressive behavior, Gait apraxi... |
OMIM:615157 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Reduced social recipr... |
ORPHA:449291 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
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Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Broad-based gait, Inability to walk, Reduced social reciprocity, Attention deficit hyperactivity ... |
OMIM:617854 |
Pitt-Hopkins-Like Syndrome 1 |
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Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... |
OMIM:610042 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... |
OMIM:605373 |
47,Xyy Syndrome |
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Reduced social reciprocity, Attention deficit hyperactivity disorder, Increased serum testosteron... |
ORPHA:8 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Aggressive behavior, Dysphagia, Reduced social reciprocity, Ataxia |
OMIM:619738 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Disinhibition, Abnormal social behavior, Agitation, Ataxia |
ORPHA:1020 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level |
ORPHA:441 |
Myoclonic-Astatic Epilepsy |
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Reduced social reciprocity, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Unst... |
ORPHA:1942 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
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Reduced social reciprocity |
OMIM:617051 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Precocious puberty, Maturity-onset diabetes of the young, Reduced social reciprocity |
ORPHA:254531 |
Childhood Disintegrative Disorder |
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Motor stereotypy, Reduced social reciprocity |
ORPHA:168782 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
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Aggressive behavior, Reduced social reciprocity |
OMIM:616083 |
Young-Onset Parkinson Disease |
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Gait imbalance, Restless legs, Agitation, Reduced social reciprocity, Bradykinesia, Impulsivity |
ORPHA:2828 |
Intellectual Developmental Disorder, X-Linked 98 |
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Central hypothyroidism, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Re... |
OMIM:300912 |
Childhood Absence Epilepsy |
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Punding, Attention deficit hyperactivity disorder, Abnormal social behavior |
ORPHA:64280 |
Neuroblastoma |
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Elevated circulating catecholamine level, Antalgic gait, Ataxia |
ORPHA:635 |
Rett Syndrome, Congenital Variant |
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Bruxism, Reduced social reciprocity, Tongue thrusting, Pachygyria, Athetosis, Motor stereotypy, S... |
OMIM:613454 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Unsteady gait, Reduced social reciprocity, Ataxia |
OMIM:256600 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Progressive gait ataxia, Gait ataxia, Tip-toe gait, Abnormal social behavior |
ORPHA:309256 |
Cerebral Creatine Deficiency Syndrome 1 |
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Broad-based gait, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:300352 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Polymicrogyria, Type II lissencephaly, Inability to walk, Reduced social reciprocity, Spastic ata... |
ORPHA:300570 |
Alg11-Cdg |
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Gray matter heterotopia, Reduced social reciprocity, Ataxia |
ORPHA:280071 |
48,Xxxy Syndrome |
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Hypogonadism, Attention deficit hyperactivity disorder, Type II diabetes mellitus, Abnormal socia... |
ORPHA:96263 |
Fg Syndrome Type 1 |
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Small pituitary gland, Broad-based gait, Attention deficit hyperactivity disorder, Compulsive beh... |
ORPHA:93932 |
Pontocerebellar Hypoplasia, Type 8 |
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Gait ataxia, Dysphagia, Reduced social reciprocity |
OMIM:614961 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Re... |
ORPHA:177907 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Abnormal cortical gyration, Dysmetria, Aggressive behavior, Unsteady gait, Nonprogressive... |
ORPHA:314647 |
Chromosome 15Q11.2 Deletion Syndrome |
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Reduced social reciprocity, Attention deficit hyperactivity disorder, Ataxia, Compulsive behavior... |
OMIM:615656 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Reduced social... |
OMIM:156200 |
Phelan-Mcdermid Syndrome |
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Broad-based gait, Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusting, Uns... |
OMIM:606232 |
Lead Poisoning |
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Decreased circulating osteocalcin level, Reduced social reciprocity, Attention deficit hyperactiv... |
ORPHA:330015 |
Proximal 16P11.2 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Motor stereotypy, Choreoathetosis, Reduced social recip... |
ORPHA:261197 |
Congenital Disorder Of Deglycosylation 2 |
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Gray matter heterotopia, Dysphagia, Reduced social reciprocity, Polymicrogyria |
OMIM:619775 |
Wagro Syndrome |
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Reduced social reciprocity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation |
OMIM:612469 |
Beck-Fahrner Syndrome |
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Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618798 |
Tuberous Sclerosis Complex |
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Self-injurious behavior, Pituitary adenoma, Pheochromocytoma, Parathyroid hyperplasia, Aggressive... |
ORPHA:805 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Compulsive behaviors, Aggressive behavior, Hyperactivity, Reduced social reciprocity |
OMIM:309520 |
Metachromatic Leukodystrophy, Juvenile Form |
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Progressive gait ataxia, Abnormal social behavior |
ORPHA:309263 |
7Q11.23 Microduplication Syndrome |
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Self-injurious behavior, Dysmetria, Reduced social reciprocity, Aggressive behavior, Polyphagia, ... |
ORPHA:96121 |
Metachromatic Leukodystrophy, Adult Form |
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Difficulty walking, Progressive gait ataxia, Abnormal social behavior |
ORPHA:309271 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Restrictive behavior, Broad-based gait, Falls, Tip-toe gait, Violent behavior, Bruxism, Reduced s... |
OMIM:619475 |
Von Hippel-Lindau Disease |
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Elevated circulating catecholamine level, Adrenal pheochromocytoma, Pancreatic islet cell adenoma... |
ORPHA:892 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... |
ORPHA:363958 |
Niemann-Pick Disease Type C |
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Disinhibition, Progressive gait ataxia, Aggressive behavior, Gait disturbance, Ataxia, Compulsive... |
ORPHA:646 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Inability to walk, Abnormal social behavior |
ORPHA:1675 |
Adnp Syndrome |
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Abnormal temper tantrums, Oral-pharyngeal dysphagia, Reduced social reciprocity, Polyphagia, Atte... |
ORPHA:404448 |
Mend Syndrome |
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Aggressive behavior, Hyperactivity, Abnormal social behavior |
ORPHA:401973 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... |
ORPHA:293987 |
Helsmoortel-Van Der Aa Syndrome |
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Decreased response to growth hormone stimulation test, Bruxism, Reduced social reciprocity, Polyp... |
OMIM:615873 |
Trichothiodystrophy |
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Gait ataxia, Reduced social reciprocity |
ORPHA:33364 |
Williams Syndrome |
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Precocious puberty, Gait imbalance, Type II diabetes mellitus, Dysmetria, Overfriendliness, Hypog... |
ORPHA:904 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Self-injurious behavior, Abnormal fear-induced behavior, Reduced social reciprocity, Aggressive b... |
ORPHA:353281 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Difficulty walking, Gait ataxia, Reduced social reciprocity |
ORPHA:457359 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Polymicrogyria, Congenital hypothyroidism, Oppositional defiant disorder, Self-mutilation, Reduce... |
OMIM:607872 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Self-injurious behavior, Abnormal fear-induced behavior, Reduced social reciprocity, Aggressive b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Self-injurious behavior, Abnormal fear-induced behavior, Reduced social reciprocity, Aggressive b... |
ORPHA:353277 |
17Q11 Microdeletion Syndrome |
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Precocious puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Reduced soc... |
ORPHA:97685 |
Mowat-Wilson Syndrome |
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Broad-based gait, Polymicrogyria, Inability to walk, Bruxism, Periventricular heterotopia, Reduce... |
ORPHA:2152 |