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HelpList of clinical characteristics with the ailment/phenotype shown from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more info with regards to the illness, be sure to go to the sickness information and facts website page.
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A issue where There exists elevated muscle mass tone in order that arms or legs, for instance, are stiff and hard to go.
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Efficacy and tolerability of fenfluramine in clients with Dravet syndrome: A systematic evaluation and meta-Examination.
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A seizure is definitely an intermittent abnormality of nervous method physiology characterised by a transient prevalence of signals and/or indicators because of irregular abnormal or synchronous neuronal activity during the Mind.
A delay from the website accomplishment of motor or mental milestones in the domains of improvement of a baby, including motor competencies, speech and language, cognitive skills, and social and emotional capabilities. This phrase need to only be utilized to explain kids younger than five years of age.
Electroclinical capabilities and phenotypic discrepancies in adenylosuccinate lyase deficiency: prolonged-time period comply with-up of 7 sufferers from 4 families and appraisal of the literature.
Fenfluramine gives clinically significant reduction in frequency of drop seizures in sufferers with Lennox-Gastaut syndrome: Interim analysis of an open-label extension examine.
carol : 07/21/2020 Take note: OMIM is meant to be used primarily by medical professionals and various pros worried about genetic Diseases, by genetics researchers, and by State-of-the-art college students in science and medication. even though the OMIM database is open up to the general public, people searching for details about a private medical or genetic situation are urged to consult with a certified health practitioner for analysis and for responses to non-public issues. OMIM® and Online Mendelian Inheritance in male® are registered trademarks from the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College.
Fenfluramine offers clinically meaningful reduction in frequency of fall seizures in clients with Lennox-Gastaut syndrome: Interim Investigation of an open-label extension examine.
An abnormal configuration with the reduce lip these types of that it is turned outward i.e., everted, Using the Inner facet of the reduced lip vermilion (Generally opposing the teeth) being obvious in the frontal view.
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Comparative safety of antiepileptic prescription drugs for neurological growth in small children exposed all through pregnancy and breast feeding: a scientific evaluation and community meta-Assessment.
Comparative basic safety of antiepileptic medicine for neurological improvement in kids exposed through pregnancy and breast feeding: a scientific evaluation and community meta-analysis.
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