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Skin crease extending from under the internal canthus laterally along the malar technique of the maxilla and zygoma.
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HelpList of medical options of your issue/phenotype exhibited from resources including the Human Phenotype Ontology (HPO) and OMIM. To find out more about the condition, you should Visit the illness information and facts web site.
Take note: OMIM is intended to be used mainly by doctors and other pros worried about genetic Problems, by genetics researchers, and by State-of-the-art college students in science and medication. whilst the OMIM database is open up to the general public, consumers in search of specifics of a personal professional medical or genetic affliction are urged to consult with a professional medical professional for prognosis and for solutions to private thoughts. OMIM® and on line Mendelian Inheritance in gentleman® are registered logos from the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. 15, 2024 ×
IMPORTANT Observe: NIH isn't going to independently validate information and facts submitted to your GTR; it depends on submitters to deliver info that may be exact instead of misleading.
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Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: a scientific review and meta-analysis.
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A seizure can be an intermittent abnormality of nervous system physiology characterised by a transient occurrence of symptoms and/or indications as a result of abnormal too much or synchronous neuronal activity during the Mind.
Epileptogenic brain malformations: scientific presentation, malformative patterns and indications for genetic screening.
Electroclinical capabilities and phenotypic dissimilarities in adenylosuccinate lyase deficiency: very long-time period stick to-up of seven individuals from four households and appraisal of your literature.
very long-expression developmental outcome of youngsters of ladies with epilepsy, unexposed or exposed prenatally to antiepileptic medicine: a meta-Investigation of cohort scientific studies.
carol : 07/21/2020 Observe: OMIM is meant for use generally by physicians and various professionals concerned with genetic Ailments, by genetics scientists, and by Superior pupils in science and medication. While the OMIM database is open to the public, customers seeking specifics of a personal health care or genetic issue are urged to refer to with a qualified physician for prognosis and for responses to personal thoughts. OMIM® and on-line Mendelian Inheritance in male® are registered logos in the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College.
Fenfluramine supplies clinically significant reduction in frequency of fall seizures in sufferers with Lennox-Gastaut syndrome: Interim analysis of the open-label extension study.
Comparative protection of more info antiepileptic medicines for neurological advancement in little ones exposed during pregnancy and breast feeding: a scientific overview and community meta-Assessment.
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OMIM Donation: pricey OMIM consumer, to be sure prolonged-term funding to the OMIM venture, Now we have diversified our income stream. we've been identified to keep this Web site freely accessible. regrettably, it is not absolutely free to produce. specialist curators review the literature and Manage it to facilitate your work. around ninety% on the OMIM's working bills visit salary assist for MD and PhD science writers and biocurators.
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