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HelpList of clinical features with the issue/phenotype exhibited from resources such as the Human Phenotype Ontology (HPO) and OMIM. For more info concerning the ailment, you should go to the disease information page.
NOTE: OMIM is meant to be used principally by medical professionals and also other professionals worried about genetic Problems, by genetics scientists, and by Innovative students in science and drugs. While the OMIM database is open up to the public, customers in search of information regarding a personal medical or genetic situation are urged to refer to with a certified medical professional for prognosis and for responses to non-public inquiries. OMIM® and on the internet Mendelian Inheritance in gentleman® are registered logos from the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. 15, 2024 ×
essential Notice: NIH does not independently confirm information submitted get more info towards the GTR; it relies on submitters to provide details that is definitely exact rather than deceptive.
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Efficacy and tolerability of fenfluramine in sufferers with Dravet syndrome: A systematic overview and meta-Examination.
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A seizure is an intermittent abnormality of nervous method physiology characterised by a transient prevalence of signals and/or symptoms on account of abnormal extreme or synchronous neuronal activity during the Mind.
Epileptogenic brain malformations: medical presentation, malformative designs and indications for genetic testing.
Electroclinical options and phenotypic distinctions in adenylosuccinate lyase deficiency: very long-expression adhere to-up of seven clients from four families and appraisal of your literature.
Fenfluramine provides clinically significant reduction in frequency of drop seizures in clients with Lennox-Gastaut syndrome: Interim Investigation of an open up-label extension research.
carol : 07/21/2020 Be aware: OMIM is intended for use largely by medical professionals and various experts worried about genetic Diseases, by genetics scientists, and by advanced learners in science and medication. even though the OMIM databases is open to the public, consumers seeking information about a private healthcare or genetic situation are urged to consult with a certified physician for diagnosis and for answers to private inquiries. OMIM® and on the internet Mendelian Inheritance in gentleman® are registered trademarks of the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University.
Fenfluramine gives clinically meaningful reduction in frequency of fall seizures in people with Lennox-Gastaut syndrome: Interim Assessment of an open-label extension review.
Comparative safety of antiepileptic medicine for neurological enhancement in kids uncovered during pregnancy and breast feeding: a scientific overview and community meta-Evaluation.
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Comparative safety of antiepileptic medicines for neurological improvement in children uncovered throughout pregnancy and breast feeding: a systematic assessment and network meta-analysis.
Comparative basic safety of antiepileptic drugs for neurological advancement in young children uncovered through pregnancy and breast feeding: a systematic evaluation and community meta-Investigation.
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