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HelpList of clinical features on the condition/phenotype displayed from resources like the Human Phenotype Ontology (HPO) and OMIM. To find out more concerning the ailment, remember to Visit the disease information web site.
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A condition during which There may be greater muscle mass tone so that arms or legs, for instance, are rigid and tricky to go.
with certain questions on a genetic test ought to Get hold of a health care supplier or simply a genetics Qualified.
Efficacy and tolerability of fenfluramine in clients with Dravet syndrome: A systematic critique check here and meta-Assessment.
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A seizure is definitely an intermittent abnormality of anxious procedure physiology characterised by a transient incidence of signs and/or symptoms due to irregular too much or synchronous neuronal activity from the Mind.
A hold off while in the achievement of motor or psychological milestones in the domains of growth of a kid, including motor skills, speech and language, cognitive techniques, and social and psychological expertise. This term should only be utilised to describe small children young than five years of age.
Electroclinical options and phenotypic variances in adenylosuccinate lyase deficiency: lengthy-phrase comply with-up of seven individuals from 4 family members and appraisal of the literature.
Fenfluramine supplies clinically significant reduction in frequency of drop seizures in clients with Lennox-Gastaut syndrome: Interim Investigation of an open-label extension analyze.
carol : 07/21/2020 Take note: OMIM is meant for use mainly by physicians and various pros concerned with genetic Issues, by genetics researchers, and by advanced learners in science and medication. whilst the OMIM database is open up to the general public, consumers seeking information about a personal professional medical or genetic condition are urged to refer to with an experienced health practitioner for analysis and for responses to personal inquiries. OMIM® and on-line Mendelian Inheritance in male® are registered logos on the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College.
Fenfluramine gives clinically significant reduction in frequency of drop seizures in sufferers with Lennox-Gastaut syndrome: Interim Examination of an open up-label extension examine.
Comparative safety of antiepileptic medication for neurological development in small children uncovered for the duration of pregnancy and breast feeding: a systematic review and community meta-Examination.
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OMIM Donation: expensive OMIM person, to make certain extended-expression funding for the OMIM job, We've diversified our earnings stream. we're identified to help keep this website freely accessible. sad to say, It's not necessarily free of charge to provide. professional curators review the literature and organize it to aid your get the job done. about ninety% in the OMIM's working costs check out income assist for MD and PhD science writers and biocurators.
Comparative basic safety of antiepileptic medicines for neurological improvement in young children exposed throughout pregnancy and breast feeding: a scientific evaluate and community meta-Examination.
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