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HelpList of medical functions of the ailment/phenotype exhibited from sources including the Human Phenotype Ontology (HPO) and OMIM. To learn more with regard to the sickness, make sure you Visit the disorder facts site.
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A ailment through which There's elevated muscle tone to ensure arms or legs, as an example, are stiff and tough to transfer.
with distinct questions about a genetic exam should really Get in touch with a health treatment provider or possibly a genetics professional.
Efficacy and tolerability of fenfluramine in people with Dravet syndrome: a scientific overview and meta-Investigation.
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A seizure is definitely an intermittent abnormality of anxious program physiology characterized by a transient prevalence of indicators and/or signs and symptoms as a result of irregular abnormal or synchronous neuronal action in the brain.
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic tests.
Progressive microcephaly is diagnosed when The pinnacle circumference falls progressively guiding age- and gender-dependent norms.
Fenfluramine gives clinically significant reduction in frequency of fall seizures in sufferers with Lennox-Gastaut syndrome: Interim Assessment of the open up-label extension study.
carol : 07/21/2020 Observe: OMIM is intended to be used generally by medical professionals together with other pros concerned with genetic disorders, by genetics researchers, and by Superior college students in science and medicine. although the OMIM databases is open up to the public, consumers trying to find specifics of a private health care or genetic problem are urged to refer to with a qualified medical doctor for analysis and for answers to non-public questions. OMIM® and on-line Mendelian Inheritance in male® are registered emblems with the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University.
NIH tends to make no endorsements of assessments or laboratories stated during the GTR. GTR isn't a substitute for medical advice. people and consumers
Comparative safety of antiepileptic medicines for neurological progress in youngsters uncovered throughout pregnancy and breast feeding: a scientific critique and community meta-analysis.
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OMIM Donation: pricey OMIM User, to guarantee extensive-term funding for your OMIM job, we have diversified our earnings stream. more info we've been determined to help keep this website freely obtainable. regretably, It is far from totally free to generate. pro curators evaluate the literature and Manage it to aid your do the job. Over ninety% of your OMIM's functioning fees head over to wage aid for MD and PhD science writers and biocurators.
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