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HelpList of scientific capabilities from the issue/phenotype shown from resources including the Human Phenotype Ontology (HPO) and OMIM. For more information with regards to the ailment, you should go to the disorder information website page.
Observe: OMIM is intended to be used mostly by doctors along with other pros concerned with genetic Conditions, by genetics researchers, and by advanced students in science and medicine. though the OMIM database is open to the general public, consumers searching for information about a personal clinical or genetic condition are urged to refer to with a certified medical professional for diagnosis and for solutions to private inquiries. OMIM® and on the web Mendelian Inheritance in male® are registered trademarks on the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. fifteen, 2024 ×
essential Observe: NIH isn't going to independently validate information and facts submitted to the GTR; it depends on submitters to provide details that is certainly accurate and never deceptive.
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Efficacy and tolerability of fenfluramine in individuals with Dravet syndrome: A systematic overview and meta-Investigation.
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A hold off inside the accomplishment of motor or mental milestones inside the domains of progress of a kid, which includes motor capabilities, speech and language, cognitive techniques, and social and psychological skills. This term need to only be made use of to explain kids youthful than five years of age.
Electroclinical features and phenotypic variances in adenylosuccinate lyase deficiency: Long-time period observe-up of seven sufferers from four people and appraisal of the literature.
extensive-time here period developmental consequence of kids of girls with epilepsy, unexposed or exposed prenatally to antiepileptic drugs: a meta-Investigation of cohort reports.
These guidelines are articles in PubMed that match particular lookup conditions developed by MedGen to capture essentially the most applicable exercise guidelines. This list will not be detailed and may include broader subject areas too. See the FAQ for particulars.
Fenfluramine offers clinically meaningful reduction in frequency of drop seizures in people with Lennox-Gastaut syndrome: Interim Evaluation of an open-label extension analyze.
Comparative basic safety of antiepileptic medicine for neurological enhancement in kids exposed through pregnancy and breast feeding: a systematic assessment and community meta-Assessment.
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Comparative basic safety of antiepileptic drugs for neurological enhancement in small children uncovered in the course of pregnancy and breast feeding: a systematic evaluation and network meta-analysis.
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