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HelpList of scientific functions of your issue/phenotype shown from sources such as the Human Phenotype Ontology (HPO) and OMIM. To find out more with regard to the disease, be sure to go to the ailment facts website page.
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A situation by which There exists increased muscle tone to ensure arms or legs, by way of example, are rigid and difficult to go.
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Efficacy and tolerability of fenfluramine in sufferers with Dravet syndrome: A systematic evaluation and meta-Assessment.
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A delay inside the accomplishment of motor or psychological milestones while in the domains of enhancement of a child, including motor skills, speech and language, cognitive expertise, and social and emotional competencies. This expression should only be employed to describe small children youthful than 5 years of age.
Progressive microcephaly is diagnosed when the head circumference falls progressively guiding age- and gender-dependent norms.
Fenfluramine gives clinically meaningful reduction in frequency of drop seizures in sufferers with Lennox-Gastaut syndrome: Interim Evaluation of an open up-label extension research.
carol : 07/21/2020 Observe: OMIM is intended to be used mainly by medical professionals and other professionals worried about genetic Problems, by genetics researchers, and by Superior college students in science and medication. although the OMIM database is open up to the general public, end users trying to get specifics of a private medical or genetic affliction are urged to consult with an experienced doctor for prognosis and for solutions to non-public thoughts. OMIM® and on the net Mendelian Inheritance in Man® are registered trademarks of your Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College.
Fenfluramine presents clinically significant reduction in frequency of drop seizures in people with Lennox-Gastaut syndrome: Interim analysis of an open up-label extension analyze.
An irregular configuration on the lower lip these that it is turned outward i.e., everted, Along with the internal element of the lower lip vermilion (Usually opposing the enamel) getting visible in a frontal see.
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OMIM Donation: expensive OMIM consumer, to be sure extended-expression funding for the OMIM challenge, we have diversified our revenue stream. We are here established to help keep this website freely accessible. regretably, It's not totally free to create. pro curators evaluation the literature and Arrange it to facilitate your get the job done. more than ninety% on the OMIM's functioning costs go to income help for MD and PhD science writers and biocurators.
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