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HelpList of medical capabilities of your situation/phenotype shown from sources website including the Human Phenotype Ontology (HPO) and OMIM. For more information in regards to the illness, you should go to the condition information site.

Observe: OMIM is intended for use mainly by medical professionals and also other experts worried about genetic Issues, by genetics scientists, and by Highly developed learners in science and drugs. even though the OMIM database is open up to the public, customers seeking information about a personal health care or genetic affliction are urged to refer to with a professional health practitioner for diagnosis and for answers to personal inquiries. OMIM® and on the internet Mendelian Inheritance in person® are registered logos of the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. 15, 2024 ×

significant Be aware: NIH does not independently confirm details submitted to your GTR; it relies on submitters to provide data which is precise and not deceptive.

with distinct questions about a genetic exam need to Call a health and fitness treatment service provider or a genetics Experienced.

Efficacy and tolerability of fenfluramine in sufferers with Dravet syndrome: A systematic evaluation and meta-analysis.

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A delay in the accomplishment of motor or psychological milestones while in the domains of progress of a kid, like motor capabilities, speech and language, cognitive abilities, and social and psychological expertise. This term really should only be made use of to explain small children more youthful than 5 years of age.

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

Fenfluramine supplies clinically meaningful reduction in frequency of drop seizures in sufferers with Lennox-Gastaut syndrome: Interim analysis of an open-label extension analyze.

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An abnormal configuration on the decreased lip such that it's turned outward i.e., everted, With all the Inner facet of the decreased lip vermilion (Commonly opposing the tooth) staying seen in a very frontal see.

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OMIM Donation: pricey OMIM person, to be certain very long-term funding for that OMIM project, We now have diversified our income stream. we're decided to help keep this Internet site freely available. sadly, It's not necessarily cost-free to create. Expert curators overview the literature and organize it to facilitate your perform. Over ninety% in the OMIM's functioning expenses go to income help for MD and PhD science writers and biocurators.

Comparative safety of antiepileptic medication for neurological growth in youngsters exposed during pregnancy and breast feeding: a systematic review and network meta-Assessment.