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HelpList of scientific capabilities with the condition/phenotype shown from resources like the Human Phenotype Ontology (HPO) and OMIM. For more information with regards to the illness, remember to Visit the ailment info site.
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A affliction by which There exists enhanced muscle tone to make sure that arms or legs, for example, are stiff and tough to shift.
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See practice and medical guidelines in PubMed. The search engine results might include things like broader topics and may well not capture all revealed pointers. begin to see the FAQ for details.
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Epileptogenic brain malformations: scientific presentation, malformative styles and indications for genetic testing.
Electroclinical characteristics and phenotypic differences in adenylosuccinate lyase deficiency: extended-expression abide by-up of 7 clients from four family members and appraisal from the literature.
lengthy-phrase developmental end result of children of ladies with epilepsy, unexposed or exposed prenatally to antiepileptic medications: a meta-Examination of cohort scientific tests.
These recommendations are articles in PubMed that match certain look for requirements produced by MedGen to seize essentially the most applicable observe recommendations. This listing is probably not extensive and may include things like broader subject areas at the same time. See the FAQ for facts.
Fenfluramine delivers clinically significant reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of the open-label extension review.
Comparative protection of antiepileptic medicines for neurological enhancement in small children exposed for the duration of pregnancy and breast feeding: a scientific assessment and network meta-analysis.
the positioning is secure. The https:// assures you are connecting towards click here the Formal Web page Which any data you present is encrypted and transmitted securely.
OMIM Donation: Dear OMIM person, to be certain long-time period funding to the OMIM task, we have diversified our profits stream. we have been identified to maintain this website freely accessible. Unfortunately, It is far from free to create. Expert curators critique the literature and Manage it to aid your function. more than ninety% on the OMIM's functioning charges check out salary support for MD and PhD science writers and biocurators.
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