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HelpList of scientific capabilities of the ailment/phenotype exhibited from resources such as the Human Phenotype Ontology (HPO) and OMIM. To learn more with regard to the sickness, make sure you go to the ailment details web page.
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A problem during which There's increased muscle mass tone to make sure that arms or legs, such as, are stiff and hard to move.
with specific questions about a genetic check really should Make contact with a health care service provider or a genetics Expert.
Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: a scientific assessment and meta-analysis.
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A seizure is definitely an intermittent abnormality of nervous procedure physiology characterized by a transient event of signals and/or signs and symptoms on account of abnormal extreme or synchronous neuronal activity within the Mind.
A hold off in the accomplishment of motor or psychological milestones within the domains of enhancement of a child, such as motor capabilities, speech and language, cognitive capabilities, and social and emotional expertise. This expression should only be made use of to describe kids youthful than 5 years of age.
Progressive microcephaly is diagnosed when The top circumference falls progressively powering age- and gender-dependent norms.
Fenfluramine presents clinically significant reduction in frequency of drop seizures in clients with Lennox-Gastaut syndrome: Interim Evaluation of the open up-label extension examine.
These tips are content in PubMed that match certain search standards created by MedGen to capture one of the most relevant observe guidelines. This listing may not be thorough and may include broader subject areas as well. begin to see the FAQ for specifics.
Fenfluramine provides clinically meaningful reduction in frequency of fall seizures in people with Lennox-Gastaut syndrome: Interim Assessment of an open-label extension study.
Comparative basic safety of antiepileptic medication for neurological progress in small children exposed in the course of pregnancy and breast feeding: a systematic review and community meta-Assessment.
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OMIM Donation: Dear OMIM User, to be sure extensive-expression funding to the OMIM job, We've got diversified our income stream. We are identified to help keep this Web page freely accessible. Unfortunately, It isn't free to provide. specialist curators critique the literature and Manage it to aid your get the job done. Over 90% with the OMIM's working costs head to income assistance for MD and PhD science writers and biocurators.
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