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HelpList of scientific options in the issue/phenotype shown from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more info with regards to the disorder, make sure you Visit the ailment facts page.
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A problem where There is certainly increased muscle tone to ensure arms or legs, one example is, are stiff and tricky to go.
with certain questions on a genetic take a look at should contact a overall health care company or perhaps a genetics Specialist.
Efficacy and tolerability of fenfluramine in get more info individuals with Dravet syndrome: A systematic overview and meta-Evaluation.
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Epileptogenic brain malformations: scientific presentation, malformative designs and indications for genetic testing.
Electroclinical functions and phenotypic variances in adenylosuccinate lyase deficiency: extensive-term follow-up of seven individuals from four family members and appraisal on the literature.
extended-phrase developmental final result of kids of women with epilepsy, unexposed or exposed prenatally to antiepileptic medications: a meta-Assessment of cohort scientific studies.
carol : 07/21/2020 NOTE: OMIM is intended for use primarily by doctors and various professionals concerned with genetic Ailments, by genetics researchers, and by Innovative pupils in science and drugs. whilst the OMIM database is open up to the public, customers searching for information regarding a personal professional medical or genetic condition are urged to refer to with a professional medical professional for diagnosis and for solutions to personal questions. OMIM® and on line Mendelian Inheritance in person® are registered trademarks from the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University.
Fenfluramine gives clinically significant reduction in frequency of drop seizures in people with Lennox-Gastaut syndrome: Interim Examination of the open up-label extension study.
An irregular configuration in the reduce lip these that it's turned outward i.e., everted, Using the interior facet of the decreased lip vermilion (Commonly opposing the enamel) currently being obvious in a very frontal watch.
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Comparative basic safety of antiepileptic medicine for neurological development in small children uncovered in the course of pregnancy and breast feeding: a systematic critique and community meta-Examination.
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