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HelpList of medical characteristics of the affliction/phenotype exhibited from resources such as the Human Phenotype Ontology (HPO) and OMIM. check here To learn more about the sickness, remember to go to the illness details web page.

NOTE: OMIM is intended for use principally by doctors as well as other pros concerned with genetic Diseases, by genetics researchers, and by State-of-the-art college students in science and drugs. though the OMIM database is open up to the general public, users trying to get information regarding a personal clinical or genetic problem are urged to consult with a professional health practitioner for analysis and for answers to non-public thoughts. OMIM® and on the net Mendelian Inheritance in gentleman® are registered logos in the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. fifteen, 2024 ×

A condition where You can find increased muscle mass tone making sure that arms or legs, as an example, are rigid and difficult to go.

with distinct questions on a genetic exam need to Make contact with a wellness care supplier or possibly a genetics professional.

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

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A seizure is an intermittent abnormality of nervous system physiology characterised by a transient prevalence of symptoms and/or signs as a result of irregular extreme or synchronous neuronal action in the brain.

Epileptogenic Mind malformations: medical presentation, malformative styles and indications for genetic screening.

Progressive microcephaly is diagnosed when the head circumference falls progressively guiding age- and gender-dependent norms.

prolonged-time period developmental consequence of youngsters of women with epilepsy, unexposed or uncovered prenatally to antiepileptic medicine: a meta-Examination of cohort reports.

These pointers are article content in PubMed that match particular search conditions designed by MedGen to capture probably the most pertinent practice pointers. This listing will not be detailed and will include broader subject areas also. See the FAQ for specifics.

NIH makes no endorsements of assessments or laboratories shown inside the GTR. GTR will not be a substitute for health care assistance. sufferers and shoppers

An abnormal configuration in the lessen lip these types of that it's turned outward i.e., everted, Using the interior facet of the decrease lip vermilion (Ordinarily opposing the enamel) staying seen in a frontal view.

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Comparative protection of antiepileptic medications for neurological progress in children exposed in the course of pregnancy and breast feeding: a systematic overview and community meta-analysis.

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