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HelpList of scientific features of your situation/phenotype shown from resources like the Human Phenotype Ontology (HPO) and OMIM. For more information about the disorder, remember to Visit the illness information and facts site.
Notice: OMIM is meant to be used principally by physicians and other industry experts concerned with genetic Problems, by genetics scientists, and by Superior pupils in science and drugs. although the OMIM database is open to the public, people in search of details about a private health-related or genetic condition are urged to refer to with a qualified medical professional for prognosis and for solutions to private queries. OMIM® and on the internet Mendelian Inheritance in male® are registered emblems of your Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. fifteen, 2024 ×
A situation through which There may be enhanced muscle mass tone in order that arms or legs, one example is, are stiff and tough to transfer.
with particular questions about a genetic check must contact a overall health care provider or a genetics Qualified.
Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic assessment and meta-Investigation.
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A seizure is really an intermittent abnormality of nervous procedure physiology characterized by a transient incidence of symptoms and/or signs or symptoms resulting from irregular too much or synchronous neuronal action inside the Mind.
A delay during the achievement of motor or psychological milestones within the domains of growth of a baby, which includes motor expertise, speech and language, cognitive skills, and social and psychological abilities. This term ought to only be utilized to describe children young than 5 years of age.
Electroclinical attributes and phenotypic distinctions in adenylosuccinate lyase deficiency: Long-phrase abide by-up of seven clients from 4 family members and appraisal with the literature.
Fenfluramine offers clinically significant reduction in frequency of fall seizures in sufferers with Lennox-Gastaut syndrome: Interim Evaluation of the open up-label extension examine.
These guidelines are posts in PubMed that match specific research conditions developed by MedGen to seize essentially the most relevant apply rules. This checklist is probably not comprehensive and should consist of broader subjects as well. begin to see the FAQ for specifics.
Fenfluramine presents clinically significant reduction in frequency of drop seizures in clients with Lennox-Gastaut syndrome: Interim Examination of the open-label extension review.
An abnormal configuration from the decrease lip this sort of that it's turned outward i.e., everted, Using the get more info internal facet of the lessen lip vermilion (Typically opposing the teeth) remaining visible inside a frontal look at.
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Comparative basic safety of antiepileptic drugs for neurological progress in small children uncovered in the course of pregnancy and breast feeding: a systematic review and network meta-Evaluation.
Comparative safety of antiepileptic medicine for neurological development in youngsters exposed all through pregnancy and breast feeding: a systematic evaluation and network meta-Investigation.