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HelpList of scientific features of your problem/phenotype shown from resources such as the Human Phenotype Ontology (HPO) and OMIM. For more info regarding the condition, remember to here go to the condition details page.
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essential Observe: NIH isn't going to independently confirm information submitted for the GTR; it relies on submitters to deliver information that's exact rather than deceptive.
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See practice and clinical guidelines in PubMed. The search engine results may possibly include broader subject areas and may well not seize all posted pointers. See the FAQ for facts.
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Epileptogenic Mind malformations: clinical presentation, malformative patterns and indications for genetic testing.
Electroclinical features and phenotypic dissimilarities in adenylosuccinate lyase deficiency: very long-expression comply with-up of seven people from four households and appraisal in the literature.
prolonged-time period developmental outcome of youngsters of women with epilepsy, unexposed or uncovered prenatally to antiepileptic prescription drugs: a meta-analysis of cohort studies.
carol : 07/21/2020 Observe: OMIM is intended for use mainly by medical professionals together with other industry experts worried about genetic Issues, by genetics scientists, and by State-of-the-art learners in science and medicine. when the OMIM databases is open to the general public, consumers looking for information regarding a personal healthcare or genetic ailment are urged to consult with a qualified medical doctor for analysis and for answers to private inquiries. OMIM® and on the internet Mendelian Inheritance in gentleman® are registered emblems of the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College.
NIH tends to make no endorsements of assessments or laboratories detailed while in the GTR. GTR is not a substitute for healthcare information. clients and buyers
Comparative security of antiepileptic medication for neurological advancement in little ones exposed through pregnancy and breast feeding: a systematic critique and network meta-Assessment.
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OMIM Donation: expensive OMIM person, to guarantee prolonged-time period funding for that OMIM task, we have diversified our revenue stream. We are identified to keep this Web page freely accessible. however, It's not necessarily cost-free to generate. skilled curators evaluation the literature and organize it to facilitate your do the job. more than 90% in the OMIM's running charges check out salary assistance for MD and PhD science writers and biocurators.
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