Autism, Susceptibility To, 20 |
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Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Hereditary Geniospasm |
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Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
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Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions |
OMIM:611092 |
Childhood Disintegrative Disorder |
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Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Meningioma |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Abnormal social behavior |
ORPHA:436151 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
Thyrotropin-Releasing Hormone Deficiency |
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Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
Progressive Supranuclear Palsy |
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Impulsivity, Unsteady gait, Depression, Abnormal synaptic transmission, Dementia, Falls, Cognitiv... |
ORPHA:683 |
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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Tremor, Short attention span, Abnormal social behavior, Choreoathetosis |
ORPHA:391417 |
Sim1-Related Prader-Willi-Like Syndrome |
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Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo... |
ORPHA:398079 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Absence of pub... |
ORPHA:398069 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Alobar Holoprosencephaly |
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Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder |
ORPHA:444002 |
Stiff Person Spectrum Disorder |
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Emotional lability, Exaggerated startle response, Diabetes mellitus, Hypothyroidism |
ORPHA:3198 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308750 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Tay-Sachs Disease |
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Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior |
ORPHA:1020 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308700 |
Metachromatic Leukodystrophy, Juvenile Form |
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Short attention span, Progressive psychomotor deterioration, Dystonia, Emotional lability, Abnorm... |
ORPHA:309263 |
Metachromatic Leukodystrophy, Adult Form |
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Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Deme... |
ORPHA:309271 |
Childhood Absence Epilepsy |
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Abnormal social behavior, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Stiff-Person Syndrome |
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Depression, Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Short attention span, Exaggerated startle response, Irritability |
OMIM:617864 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response, Depression |
OMIM:620114 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Tay-Sachs Disease |
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Short attention span, Exaggerated startle response, Tremor, Precocious puberty, Abnormal thalamic... |
ORPHA:845 |
Leukodystrophy, Hypomyelinating, 13 |
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Irritability, Exaggerated startle response |
OMIM:616881 |
48,Xxxy Syndrome |
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Tremor, Irritability, Hypogonadism, Type II diabetes mellitus, Attention deficit hyperactivity di... |
ORPHA:96263 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal social behavior |
ORPHA:101039 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Kallmann Syndrome |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Tremor, De... |
ORPHA:478 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Emotional lability, Abnormal social behavior, Dystonia |
ORPHA:309256 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Lamb-Shaffer Syndrome |
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Abnormal social behavior |
ORPHA:530983 |
Sandhoff Disease |
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Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
Niemann-Pick Disease Type C |
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Axial dystonia, Dystonia, Progressive neurologic deterioration, Tremor, Depression, Dementia, Low... |
ORPHA:646 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Abnormality of the diencephalon |
ORPHA:2570 |
Fg Syndrome Type 1 |
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Abnormal social behavior, Small pituitary gland, Attention deficit hyperactivity disorder |
ORPHA:93932 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Cognitive impairment, Congenital hypothyroidism |
OMIM:617527 |
Asparagine Synthetase Deficiency |
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Tremor, Irritability, Exaggerated startle response |
OMIM:615574 |
Prader-Willi Syndrome Due To Translocation |
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Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
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Abnormality of the diencephalon |
ORPHA:2165 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Tuberous Sclerosis Complex |
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Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Depression, Pheochromocyt... |
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 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Irritability, Exaggerated startle response |
OMIM:618367 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Memory impairment, Abnormal social behavior, Intention tremor |
ORPHA:314647 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... |
ORPHA:363958 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Abnormality of the diencephalon |
ORPHA:2720 |
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 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Abnormality of the endocrine system, Precocious puberty, Abnormalit... |
ORPHA:438213 |
Williams Syndrome |
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Hypogonadotropic hypogonadism, Tremor, Precocious puberty, Depression, Abnormal social behavior, ... |
ORPHA:904 |
Mend Syndrome |
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Abnormal social behavior |
ORPHA:401973 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:619522 |
Norrie Disease |
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Diabetes mellitus, Irritability, Attention deficit hyperactivity disorder, Delayed puberty, Abnor... |
ORPHA:649 |
Cystic Fibrosis |
|
Depression |
ORPHA:586 |