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HelpList of scientific features with the situation/phenotype exhibited from sources including the Human Phenotype Ontology (HPO) and OMIM. To find out more regarding the ailment, make sure you Visit the illness info page.
Observe: OMIM is meant for use largely by medical professionals as well as other gurus concerned with genetic Diseases, by genetics researchers, and by State-of-the-art pupils in science and drugs. though the OMIM database is open up to the public, end users seeking specifics of a personal healthcare or genetic issue are urged to consult with a professional physician for diagnosis and for answers to non-public questions. OMIM® and on the web Mendelian Inheritance in Man® are registered trademarks from the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. 15, 2024 ×
A issue where There is certainly elevated muscle tone making sure that arms or legs, by way of example, are rigid and tricky to transfer.
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Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic evaluate and meta-analysis.
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Epileptogenic brain malformations: medical presentation, malformative patterns and indications for genetic screening.
Electroclinical functions and phenotypic variations in adenylosuccinate lyase deficiency: prolonged-expression comply with-up of 7 people from four family members and appraisal of your literature.
lengthy-term developmental end result of youngsters of women with epilepsy, unexposed or exposed prenatally to antiepileptic medications: a meta-Examination of cohort experiments.
These suggestions are article content in PubMed that match specific lookup requirements created by MedGen to capture quite possibly the most related exercise suggestions. This list is probably not in depth and may incorporate broader subject areas too. See the FAQ for aspects.
Fenfluramine gives clinically significant reduction in frequency of fall seizures in people with Lennox-Gastaut syndrome: Interim Evaluation of an open-label extension analyze.
An irregular configuration in the decrease lip these that it is turned outward i.e., everted, Along with the Inner aspect of the reduce lip vermilion (Typically opposing the enamel) currently being noticeable inside a frontal look at.
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OMIM Donation: Dear OMIM User, to make certain lengthy-term funding for that OMIM task, We've got diversified our income stream. We are decided to keep this Web page freely here accessible. sadly, It isn't cost-free to provide. pro curators overview the literature and Arrange it to facilitate your do the job. about 90% of the OMIM's running bills drop by wage help for MD and PhD science writers and biocurators.
Comparative basic safety of antiepileptic medicine for neurological progress in children uncovered throughout pregnancy and breast feeding: a scientific review and network meta-Investigation.
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