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HelpList of clinical features on the situation/phenotype displayed from sources including the Human Phenotype Ontology (HPO) and OMIM. To find out more about the ailment, remember to Visit the illness information site.

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critical Be aware: NIH does not independently validate details submitted to your GTR; it depends on submitters to deliver facts that is precise and never deceptive.

with unique questions about a genetic test should Call a health and fitness treatment provider or simply a genetics Specialist.

Efficacy and tolerability of fenfluramine in sufferers with Dravet syndrome: a scientific evaluation and meta-Examination.

the website is secure. The https:// makes sure that you are connecting on the Formal Web-site and that any facts you supply is encrypted and transmitted securely.

A seizure is surely an intermittent abnormality of anxious procedure physiology characterised by a transient incidence of indicators and/or symptoms because of irregular too much or synchronous neuronal activity in the Mind.

A hold off within the accomplishment of motor or mental milestones during the domains of improvement of a toddler, like motor competencies, speech and language, cognitive techniques, and social and psychological competencies. This expression should really only be employed to explain small children more youthful than five years of age.

Progressive microcephaly is diagnosed when The top circumference here falls progressively guiding age- and gender-dependent norms.

extended-term developmental final result of youngsters of ladies with epilepsy, unexposed or exposed prenatally to antiepileptic medications: a meta-Assessment of cohort scientific studies.

These guidelines are articles or blog posts in PubMed that match certain look for requirements designed by MedGen to seize one of the most applicable apply guidelines. This list might not be extensive and should involve broader topics also. begin to see the FAQ for particulars.

NIH helps make no endorsements of exams or laboratories detailed from the GTR. GTR isn't a substitute for health care suggestions. individuals and customers

Comparative basic safety of antiepileptic medication for neurological development in small children exposed for the duration of pregnancy and breast feeding: a scientific evaluate and community meta-Examination.

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OMIM Donation: pricey OMIM User, to be sure lengthy-phrase funding with the OMIM challenge, we have diversified our earnings stream. we have been identified to help keep this Web site freely accessible. however, It's not at all totally free to supply. specialist curators evaluation the literature and organize it to facilitate your function. around 90% with the OMIM's functioning expenditures visit salary assist for MD and PhD science writers and biocurators.

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