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HelpList of scientific features on the situation/phenotype shown from resources like the Human Phenotype Ontology (HPO) and OMIM. To learn more about the disease, please Visit the disease details page.

Observe: OMIM is intended for use generally by physicians and other professionals concerned with genetic Conditions, by genetics researchers, and by Sophisticated learners in science and medication. whilst the OMIM databases is open to the general public, buyers seeking information regarding a private health care or genetic affliction are urged to consult check here with a certified physician for prognosis and for solutions to private queries. OMIM® and on line Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. 15, 2024 ×

A condition in which There may be greater muscle tone so that arms or legs, for example, are stiff and difficult to transfer.

with unique questions about a genetic test should Get hold of a health care provider or perhaps a genetics Experienced.

Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: a scientific review and meta-Investigation.

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A delay inside the accomplishment of motor or mental milestones from the domains of development of a child, like motor techniques, speech and language, cognitive capabilities, and social and psychological abilities. This term really should only be applied to explain little ones young than five years of age.

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

very long-term developmental result of kids of girls with epilepsy, unexposed or uncovered prenatally to antiepileptic prescription drugs: a meta-Investigation of cohort scientific tests.

These pointers are content articles in PubMed that match unique research conditions made by MedGen to seize by far the most related observe guidelines. This listing may not be comprehensive and could include broader subjects at the same time. begin to see the FAQ for aspects.

NIH can make no endorsements of exams or laboratories stated while in the GTR. GTR just isn't a substitute for medical advice. clients and shoppers

Comparative security of antiepileptic medicine for neurological enhancement in kids uncovered in the course of pregnancy and breast feeding: a scientific assessment and community meta-Investigation.

The site is safe. The https:// makes sure that you will be connecting to the Formal Site Which any info you deliver is encrypted and transmitted securely.

OMIM Donation: pricey OMIM person, to make certain prolonged-expression funding for your OMIM task, We have now diversified our revenue stream. we've been determined to maintain this Internet site freely accessible. sad to say, It's not absolutely free to make. professional curators assessment the literature and Arrange it to facilitate your perform. in excess of 90% on the OMIM's running expenses go to income aid for MD and PhD science writers and biocurators.

Comparative security of antiepileptic medicines for neurological growth in little ones uncovered throughout pregnancy and breast feeding: a scientific assessment and network meta-Investigation.

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