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HelpList of medical options on the situation/phenotype exhibited from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information about the disorder, make sure you Visit the illness information and facts page.
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significant Be aware: NIH would not independently verify details submitted towards the GTR; it depends on submitters to deliver info that is precise and never deceptive.
with precise questions on a genetic test should really contact a health and fitness treatment provider or maybe a genetics Experienced.
Efficacy and tolerability of fenfluramine in sufferers with Dravet syndrome: A systematic overview and meta-Evaluation.
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A seizure can be an intermittent abnormality of anxious program physiology characterized by a transient incidence of indicators and/or indications on account of abnormal excessive or synchronous neuronal action from the brain.
A delay during the achievement of motor or psychological milestones inside the domains of check here advancement of a child, such as motor capabilities, speech and language, cognitive techniques, and social and emotional competencies. This term should only be employed to describe small children younger than five years of age.
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: prolonged-term adhere to-up of seven sufferers from four families and appraisal of your literature.
Fenfluramine gives clinically significant reduction in frequency of fall seizures in people with Lennox-Gastaut syndrome: Interim Examination of the open-label extension analyze.
carol : 07/21/2020 Observe: OMIM is meant to be used mainly by physicians and various experts concerned with genetic Diseases, by genetics scientists, and by Innovative learners in science and drugs. While the OMIM database is open to the general public, people looking for information regarding a private health care or genetic issue are urged to refer to with a certified medical professional for prognosis and for answers to private questions. OMIM® and on-line Mendelian Inheritance in Man® are registered emblems in the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins University.
NIH can make no endorsements of exams or laboratories stated during the GTR. GTR is just not a substitute for health-related information. individuals and customers
An abnormal configuration in the lessen lip these that it's turned outward i.e., everted, Using the interior facet of the lower lip vermilion (normally opposing the tooth) becoming visible in a frontal check out.
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Comparative protection of antiepileptic medicines for neurological advancement in youngsters uncovered throughout pregnancy and breast feeding: a scientific review and network meta-Investigation.
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