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HelpList of clinical capabilities of the problem/phenotype exhibited from here sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information with regard to the sickness, make sure you Visit the illness details website page.
NOTE: OMIM is meant to be used mostly by medical professionals and various industry experts concerned with genetic Problems, by genetics scientists, and by advanced pupils in science and medicine. While the OMIM databases is open to the general public, people seeking information about a private medical or genetic ailment are urged to refer to with a qualified physician for prognosis and for responses to private concerns. OMIM® and on-line Mendelian Inheritance in guy® are registered trademarks from the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. 15, 2024 ×
A situation where there is greater muscle mass tone so that arms or legs, one example is, are rigid and challenging to move.
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Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic overview and meta-Evaluation.
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A seizure is definitely an intermittent abnormality of nervous process physiology characterized by a transient incidence of indications and/or signs and symptoms because of irregular excessive or synchronous neuronal activity within the Mind.
A hold off inside the achievement of motor or psychological milestones inside the domains of development of a youngster, which include motor competencies, speech and language, cognitive capabilities, and social and emotional skills. This term really should only be applied to explain little ones more youthful than five years of age.
Electroclinical features and phenotypic dissimilarities in adenylosuccinate lyase deficiency: lengthy-term observe-up of seven people from 4 families and appraisal in the literature.
Fenfluramine delivers clinically significant reduction in frequency of fall seizures in clients with Lennox-Gastaut syndrome: Interim Evaluation of an open up-label extension study.
These guidelines are articles or blog posts in PubMed that match precise look for standards produced by MedGen to seize probably the most suitable observe suggestions. This list will not be detailed and may incorporate broader matters too. begin to see the FAQ for details.
Fenfluramine gives clinically significant reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim Assessment of an open up-label extension analyze.
Comparative protection of antiepileptic prescription drugs for neurological progress in small children exposed during pregnancy and breast feeding: a systematic evaluate and network meta-Investigation.
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Comparative security of antiepileptic drugs for neurological improvement in young children uncovered all through pregnancy and breast feeding: a systematic evaluation and network meta-analysis.
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