Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Hereditary Geniospasm |
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Abnormality of mentalis muscle, Abnormal social behavior |
ORPHA:53372 |
Hsd10 Disease |
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Abnormal social behavior, Optic atrophy, Dysphagia |
ORPHA:391417 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Attention deficit hyperactivity disorder, Abnormal social behavior, Depressed nasal bridge, Compu... |
ORPHA:444002 |
Lamb-Shaffer Syndrome |
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Hyperactivity, Broad nasal tip, Optic atrophy, Abnormal temper tantrums, Abnormal social behavior... |
ORPHA:530983 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Trigeminal Neuralgia |
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Cranial nerve compression, Allodynia, Depression |
ORPHA:221091 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Hyperactivity, Autoimmunity, Shyness, Aggressive behavior, Depression, Irritability, Self-injurio... |
ORPHA:449291 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Young-Onset Parkinson Disease |
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Restless legs, Impulsivity, Depression, Agitation, Abnormal autonomic nervous system physiology, ... |
ORPHA:2828 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Emotional lability, Abnormal social behavior, Optic atrophy |
ORPHA:309256 |
Myasthenia Gravis |
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Limb muscle weakness, Autoimmunity, Facial palsy, Dysphagia |
OMIM:254200 |
Metachromatic Leukodystrophy, Juvenile Form |
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Decreased nerve conduction velocity, Emotional lability, Abnormal social behavior, Optic atrophy |
ORPHA:309263 |
Fg Syndrome Type 1 |
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Progressive flexion contractures, Optic nerve hypoplasia, Choanal atresia, Prominent nose, Attent... |
ORPHA:93932 |
Metachromatic Leukodystrophy, Adult Form |
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Decreased nerve conduction velocity, Optic atrophy, Depression, Emotional lability, Abnormal soci... |
ORPHA:309271 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior |
ORPHA:309246 |
Adult Acute Respiratory Distress Syndrome |
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Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior, Agitation, Deposits immunoreactive to beta-amyloid protein, Disinhibition |
ORPHA:1020 |
Benign Schwannoma |
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Nasal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, A... |
ORPHA:252164 |
48,Xxxy Syndrome |
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Depressed nasal ridge, Irritability, Attention deficit hyperactivity disorder, Abnormal social be... |
ORPHA:96263 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, L... |
ORPHA:100924 |
Childhood Absence Epilepsy |
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Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Prader-Willi Syndrome Due To Translocation |
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Narrow nasal bridge, Anteverted nares, Prominent nose, Broad nasal tip, Head-banging, Compulsive ... |
ORPHA:177907 |
Acute Lung Injury |
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Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:178320 |
Mend Syndrome |
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Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Aggressive behavior, ... |
ORPHA:401973 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Thick nasal alae, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hand muscle atrophy, Thick nasal alae, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous... |
ORPHA:363958 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Depressed nasal bridge, Anteverted nares, Irritability, Prominent nasal tip, Abnormal social beha... |
ORPHA:1675 |
Aregenerative Anemia |
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Emotional lability, Abnormality of interleukin secretion, Depression |
ORPHA:101096 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Wide nose, Anteverted nares, Aggressive behavior, Bulbous nose, Abnormal social behavior |
ORPHA:314647 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Niemann-Pick Disease Type C |
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Aggressive behavior, Aplasia/Hypoplasia of the abdominal wall musculature, Depression, Disinhibit... |
ORPHA:646 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Trichothiodystrophy |
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Reduced social reciprocity, Multiple joint contractures, Panhypogammaglobulinemia |
ORPHA:33364 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... |
ORPHA:544482 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Prominent nasal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Prominent nasal ... |
ORPHA:353277 |
Williams Syndrome |
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Wide nasal bridge, Depression, Macroglossia, Myopathy, Attention deficit hyperactivity disorder, ... |
ORPHA:904 |