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HelpList of medical functions on the problem/phenotype exhibited from sources including the Human Phenotype Ontology (HPO) and OMIM. To find out more about the illness, make sure you Visit the ailment data website page.
Be aware: OMIM is intended for use mostly by medical professionals and various pros concerned with genetic Conditions, by genetics scientists, and by Sophisticated students in science and drugs. though the OMIM database is open up to the public, people seeking information about a personal clinical or genetic problem are urged to consult with a professional health practitioner for diagnosis and for responses to non-public inquiries. OMIM® and on line Mendelian Inheritance in Man® are registered emblems in the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. 15, 2024 ×
critical Be aware: NIH won't independently validate details submitted into the GTR; it depends on submitters to provide information and facts which is precise instead of misleading.
with certain questions about a genetic exam ought to Speak to a health treatment company or maybe a genetics professional.
Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: a scientific review and meta-Evaluation.
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A seizure is definitely an intermittent abnormality of anxious system physiology characterized by a transient incidence of indications and/or indications due to irregular excessive or synchronous neuronal activity while in the Mind.
Epileptogenic Mind malformations: scientific presentation, malformative patterns and indications for genetic screening.
Electroclinical capabilities and phenotypic variances in adenylosuccinate lyase deficiency: lengthy-phrase here comply with-up of seven people from four families and appraisal of the literature.
Fenfluramine gives clinically meaningful reduction in frequency of fall seizures in people with Lennox-Gastaut syndrome: Interim Investigation of the open-label extension analyze.
carol : 07/21/2020 Observe: OMIM is intended for use mostly by physicians together with other professionals concerned with genetic Ailments, by genetics scientists, and by Sophisticated college students in science and medicine. when the OMIM databases is open to the general public, buyers trying to find information regarding a private health-related or genetic problem are urged to refer to with a certified health practitioner for prognosis and for responses to non-public queries. OMIM® and on-line Mendelian Inheritance in male® are registered emblems of the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University.
NIH tends to make no endorsements of assessments or laboratories listed while in the GTR. GTR is not really a substitute for health care suggestions. individuals and consumers
Comparative basic safety of antiepileptic drugs for neurological growth in youngsters uncovered for the duration of pregnancy and breast feeding: a scientific evaluate and community meta-Investigation.
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Comparative protection of antiepileptic medicines for neurological advancement in children exposed all through pregnancy and breast feeding: a scientific critique and network meta-Investigation.
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