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HelpList of clinical features from the issue/phenotype shown from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information regarding the disease, be sure to Visit the sickness information and facts web site.
Take note: OMIM is meant for use largely by physicians together with other gurus worried about genetic Ailments, by genetics researchers, and by Superior learners in science and medication. when the OMIM database is open up to the general public, consumers seeking information regarding a personal healthcare or genetic situation are urged to consult with an experienced medical professional for diagnosis and for responses to private issues. OMIM® and on the net Mendelian Inheritance in male® are registered logos with the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. fifteen, 2024 ×
significant Take note: NIH doesn't independently verify details submitted on the GTR; it relies on submitters to deliver information and facts that may be precise and never deceptive.
with specific questions about a genetic examination need to contact a wellness care service provider or even a genetics Expert.
Efficacy and tolerability of fenfluramine in individuals with Dravet syndrome: A systematic review and meta-Evaluation.
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A seizure can be an intermittent abnormality of nervous process physiology characterized by a transient incidence of indicators and/or indications as a result of irregular abnormal or synchronous neuronal exercise in the Mind.
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic screening.
Electroclinical characteristics and phenotypic discrepancies in adenylosuccinate lyase deficiency: very long-time period abide by-up of 7 clients from 4 households and appraisal with the literature.
Fenfluramine provides clinically meaningful reduction in frequency of fall seizures in clients with Lennox-Gastaut syndrome: Interim Assessment of an open up-label extension analyze.
These recommendations are posts in PubMed that match certain look for requirements produced by MedGen to capture probably the most relevant practice rules. This record may not be detailed and could include broader subjects in addition. begin to see the FAQ for information.
Fenfluramine presents clinically meaningful reduction in frequency of drop here seizures in patients with Lennox-Gastaut syndrome: Interim Assessment of the open-label extension study.
Comparative basic safety of antiepileptic medicines for neurological improvement in children uncovered all through pregnancy and breast feeding: a scientific assessment and network meta-Investigation.
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OMIM Donation: expensive OMIM person, to make certain very long-expression funding with the OMIM venture, We have now diversified our revenue stream. we've been determined to help keep this Web page freely accessible. sad to say, It's not at all totally free to make. skilled curators assessment the literature and Manage it to facilitate your perform. above 90% in the OMIM's operating charges visit salary assistance for MD and PhD science writers and biocurators.
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