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HelpList of scientific features from the issue/phenotype displayed from resources like the Human Phenotype Ontology (HPO) and OMIM. To find out more with regard to the condition, you should go to the illness info website page.
Take note: OMIM is meant for use primarily by physicians along with other pros concerned with genetic Problems, by genetics scientists, and by Superior pupils in science and drugs. although the OMIM databases is open up to the public, consumers trying to find information about a private health care or genetic condition are urged to refer to with a professional doctor for prognosis and for solutions to personal questions. OMIM® and on the net Mendelian Inheritance in male® are registered emblems in the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. fifteen, 2024 ×
IMPORTANT Notice: read more NIH does not independently verify information and facts submitted to your GTR; it relies on submitters to supply information and facts that may be correct instead of deceptive.
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Efficacy and tolerability of fenfluramine in people with Dravet syndrome: a scientific evaluation and meta-Assessment.
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Epileptogenic Mind malformations: clinical presentation, malformative designs and indications for genetic tests.
Electroclinical characteristics and phenotypic differences in adenylosuccinate lyase deficiency: very long-term abide by-up of seven patients from four families and appraisal from the literature.
Fenfluramine offers clinically meaningful reduction in frequency of fall seizures in individuals with Lennox-Gastaut syndrome: Interim Examination of the open up-label extension study.
carol : 07/21/2020 Notice: OMIM is intended for use primarily by medical professionals and also other pros concerned with genetic Diseases, by genetics scientists, and by Sophisticated learners in science and medication. While the OMIM database is open up to the general public, customers trying to get information about a private professional medical or genetic problem are urged to consult with an experienced doctor for diagnosis and for responses to non-public thoughts. OMIM® and on the internet Mendelian Inheritance in person® are registered trademarks on the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College.
Fenfluramine delivers clinically meaningful reduction in frequency of drop seizures in sufferers with Lennox-Gastaut syndrome: Interim Assessment of an open-label extension analyze.
Comparative safety of antiepileptic prescription drugs for neurological advancement in children exposed in the course of pregnancy and breast feeding: a systematic overview and community meta-Investigation.
the location is secure. The https:// assures that you are connecting on the official Internet site Which any information you deliver is encrypted and transmitted securely.
OMIM Donation: expensive OMIM User, to be sure prolonged-time period funding for the OMIM job, We've got diversified our profits stream. we're established to help keep this Web page freely obtainable. regretably, It is far from free to provide. Expert curators evaluate the literature and Arrange it to facilitate your get the job done. more than 90% from the OMIM's operating charges visit wage guidance for MD and PhD science writers and biocurators.
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