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HelpList of clinical functions from the situation/phenotype shown from sources like the Human Phenotype Ontology (HPO) and OMIM. For more information in regards to the condition, be sure to go to the disorder info web page.
Be aware: OMIM is meant to be used mainly by physicians along with other gurus concerned with genetic Conditions, by genetics researchers, and by Superior learners in science and medicine. whilst the OMIM databases is open up to the general public, customers in search of specifics of a private health care or genetic condition are urged to refer to with a certified health practitioner for prognosis and for responses to private questions. OMIM® and on-line Mendelian Inheritance in gentleman® are registered trademarks with the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. fifteen, 2024 ×
A issue in which There exists increased muscle tone so that arms or legs, such as, are stiff and tricky to go.
with particular questions on a genetic exam should Speak to a wellbeing care supplier or maybe a genetics Skilled.
Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: a scientific assessment and meta-Examination.
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A seizure is really an intermittent abnormality of nervous process physiology characterised by a transient occurrence of indicators and/or signs on account of abnormal excessive or synchronous neuronal exercise in the Mind.
Epileptogenic brain malformations: scientific presentation, malformative designs and indications for genetic screening.
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
extensive-time period developmental consequence of kids of girls with epilepsy, unexposed or uncovered prenatally to antiepileptic medication: a meta-Investigation of cohort experiments.
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Comparative safety of antiepileptic medicine for neurological advancement in youngsters uncovered for the duration of pregnancy and breast feeding: a systematic overview and community meta-Assessment.
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OMIM Donation: pricey OMIM consumer, to guarantee very long-time period funding to the OMIM project, Now we have diversified our revenue stream. we're identified to maintain this Site freely accessible. regretably, It's not necessarily free to supply. skilled curators evaluate the literature and organize it to aid your perform. about 90% in the OMIM's functioning costs visit income guidance for MD and PhD science writers and biocurators.
Comparative safety of antiepileptic prescription drugs for neurological enhancement in young children exposed during pregnancy and breast feeding: a scientific critique and community meta-Examination.