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HelpList of medical capabilities in the condition/phenotype displayed from resources like the Human Phenotype Ontology (HPO) and OMIM. For more info concerning the sickness, remember to Visit the ailment information site.
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IMPORTANT Observe: NIH isn't going to independently confirm info submitted into the GTR; it depends on submitters to provide details that is certainly accurate instead of deceptive.
with unique questions on a genetic website examination should Get hold of a health treatment supplier or a genetics Qualified.
See observe and clinical suggestions in PubMed. The search results could include broader topics and may not capture all posted tips. begin to see the FAQ for information.
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A seizure is surely an intermittent abnormality of anxious program physiology characterised by a transient incidence of signals and/or symptoms as a consequence of irregular excessive or synchronous neuronal action from the Mind.
A delay while in the accomplishment of motor or psychological milestones from the domains of improvement of a baby, which include motor skills, speech and language, cognitive abilities, and social and psychological skills. This time period need to only be utilized to describe kids younger than 5 years of age.
Electroclinical options and phenotypic variations in adenylosuccinate lyase deficiency: lengthy-phrase adhere to-up of 7 individuals from 4 people and appraisal of the literature.
Fenfluramine presents clinically meaningful reduction in frequency of drop seizures in individuals with Lennox-Gastaut syndrome: Interim Investigation of the open up-label extension review.
These pointers are articles or blog posts in PubMed that match precise research requirements formulated by MedGen to seize essentially the most applicable practice rules. This listing might not be complete and will contain broader matters in addition. begin to see the FAQ for particulars.
Fenfluramine supplies clinically significant reduction in frequency of drop seizures in individuals with Lennox-Gastaut syndrome: Interim Evaluation of the open up-label extension review.
Comparative basic safety of antiepileptic medicine for neurological growth in little ones exposed during pregnancy and breast feeding: a systematic critique and network meta-analysis.
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OMIM Donation: Dear OMIM consumer, To ensure extensive-time period funding for the OMIM challenge, Now we have diversified our earnings stream. we're identified to maintain this Web page freely available. however, It's not at all totally free to provide. Expert curators evaluation the literature and Arrange it to facilitate your do the job. in excess of 90% on the OMIM's running expenses check out wage support for MD and PhD science writers and biocurators.
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