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HelpList of scientific features of your ailment/phenotype shown from resources like the Human Phenotype Ontology (HPO) and OMIM. To learn more about the disorder, please go to the sickness information and facts website page.
Notice: OMIM is meant for use mainly by medical professionals and other pros concerned with genetic Conditions, by genetics scientists, and by Sophisticated college students in science and medicine. when the OMIM database is open up to the general public, buyers searching for specifics of a private clinical or genetic ailment are urged to consult with a professional medical professional for analysis and for solutions to non-public queries. OMIM® and on line Mendelian Inheritance in Man® are registered trademarks in the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University. get more info Printed: Sept. 15, 2024 ×
IMPORTANT NOTE: NIH doesn't independently verify information submitted into the GTR; it relies on submitters to provide information and facts that may be correct rather than misleading.
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Efficacy and tolerability of fenfluramine in people with Dravet syndrome: a scientific evaluation and meta-Evaluation.
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A seizure is definitely an intermittent abnormality of anxious technique physiology characterized by a transient event of symptoms and/or signs or symptoms on account of abnormal excessive or synchronous neuronal activity from the brain.
A delay within the accomplishment of motor or psychological milestones from the domains of advancement of a toddler, which include motor expertise, speech and language, cognitive techniques, and social and emotional abilities. This time period need to only be made use of to describe young children young than 5 years of age.
Electroclinical options and phenotypic dissimilarities in adenylosuccinate lyase deficiency: prolonged-time period adhere to-up of 7 clients from 4 households and appraisal of your literature.
Fenfluramine provides clinically significant reduction in frequency of fall seizures in individuals with Lennox-Gastaut syndrome: Interim Assessment of the open up-label extension research.
carol : 07/21/2020 Notice: OMIM is meant to be used mainly by doctors together with other industry experts concerned with genetic Ailments, by genetics scientists, and by State-of-the-art learners in science and drugs. whilst the OMIM databases is open to the general public, buyers searching for information regarding a private health care or genetic situation are urged to consult with a certified health practitioner for diagnosis and for answers to private inquiries. OMIM® and on the net Mendelian Inheritance in person® are registered trademarks in the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins University.
Fenfluramine provides clinically significant reduction in frequency of fall seizures in people with Lennox-Gastaut syndrome: Interim Investigation of the open up-label extension study.
Comparative security of antiepileptic medicine for neurological growth in kids exposed all through pregnancy and breast feeding: a scientific critique and community meta-Evaluation.
The site is secure. The https:// ensures that you will be connecting for the official Internet site Which any data you supply is encrypted and transmitted securely.
Comparative safety of antiepileptic medication for neurological enhancement in youngsters exposed for the duration of pregnancy and breast feeding: a systematic evaluate and network meta-Assessment.
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