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HelpList of clinical attributes of your situation/phenotype exhibited from sources like the Human Phenotype Ontology (HPO) and OMIM. For more info with regard to the sickness, you here should Visit the condition information and facts web page.
NOTE: OMIM is intended for use largely by physicians and other pros concerned with genetic Diseases, by genetics scientists, and by Superior students in science and medication. although the OMIM database is open up to the public, consumers trying to get information regarding a personal professional medical or genetic ailment are urged to refer to with a certified health practitioner for analysis and for solutions to personal queries. OMIM® and Online Mendelian Inheritance in gentleman® are registered trademarks from the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. fifteen, 2024 ×
A situation through which There is certainly improved muscle mass tone in order that arms or legs, for instance, are rigid and tough to shift.
with certain questions on a genetic check really should contact a overall health treatment provider or maybe a genetics Experienced.
Efficacy and tolerability of fenfluramine in people with Dravet syndrome: A systematic evaluation and meta-Assessment.
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A hold off in the achievement of motor or psychological milestones inside the domains of growth of a toddler, which include motor capabilities, speech and language, cognitive abilities, and social and psychological capabilities. This term should only be employed to describe youngsters young than 5 years of age.
Progressive microcephaly is diagnosed when The top circumference falls progressively powering age- and gender-dependent norms.
extensive-expression developmental final result of children of women with epilepsy, unexposed or uncovered prenatally to antiepileptic medicines: a meta-Examination of cohort studies.
These tips are articles or blog posts in PubMed that match specific search requirements developed by MedGen to seize essentially the most appropriate follow guidelines. This record may not be comprehensive and could consist of broader topics also. begin to see the FAQ for particulars.
Fenfluramine delivers clinically meaningful reduction in frequency of fall seizures in individuals with Lennox-Gastaut syndrome: Interim analysis of the open-label extension study.
An abnormal configuration of your reduce lip these kinds of that it's turned outward i.e., everted, Using the internal aspect of the lessen lip vermilion (Typically opposing the enamel) being seen in a very frontal look at.
the location is secure. The https:// makes sure that you're connecting for the Formal Web-site and that any facts you supply is encrypted and transmitted securely.
OMIM Donation: pricey OMIM person, to be sure lengthy-time period funding with the OMIM undertaking, We've diversified our income stream. we're determined to maintain this Web-site freely accessible. sad to say, It's not at all no cost to supply. qualified curators review the literature and organize it to facilitate your get the job done. above ninety% in the OMIM's working expenses check out salary help for MD and PhD science writers and biocurators.
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