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HelpList of scientific capabilities with the condition/phenotype shown from resources including the Human Phenotype Ontology (HPO) and OMIM. To learn more in regards to the disorder, remember to go to the disease details web page.
Observe: OMIM is meant for use principally by doctors and other pros concerned with genetic Problems, by genetics scientists, and by Sophisticated college students in science and drugs. whilst the OMIM database is open to the public, buyers trying to find information regarding a personal medical or genetic problem are urged to consult with a certified medical doctor for prognosis and for answers to personal thoughts. OMIM® and on-line Mendelian Inheritance in person® are registered logos of the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. fifteen, 2024 ×
A condition where There is certainly amplified muscle mass tone making sure that arms or legs, for example, are rigid and tough to move.
with unique questions on a genetic check really should contact a wellbeing care service provider or simply a genetics Experienced.
See follow and medical rules in PubMed. The search engine results may consist of broader subjects and may not seize all released recommendations. begin to see the FAQ for information.
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A seizure is surely an intermittent abnormality of nervous procedure physiology characterized by a transient prevalence of indicators and/or indicators because of irregular excessive or synchronous neuronal action within the brain.
Epileptogenic Mind malformations: scientific presentation, malformative patterns and indications for genetic tests.
Progressive microcephaly is diagnosed when The top circumference falls progressively at the rear of age- and gender-dependent norms.
prolonged-expression developmental end result of youngsters of women with epilepsy, unexposed or exposed prenatally to antiepileptic prescription drugs: a meta-Assessment of cohort reports.
These guidelines are content articles in PubMed that match distinct look for requirements made by MedGen to capture the most related observe pointers. This listing might check here not be comprehensive and will contain broader subjects too. begin to see the FAQ for information.
Fenfluramine supplies clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim Examination of an open-label extension study.
An abnormal configuration in the lower lip these that it is turned outward i.e., everted, Along with the Inner aspect of the lower lip vermilion (Usually opposing the enamel) staying visible in a frontal view.
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Comparative basic safety of antiepileptic drugs for neurological progress in kids uncovered in the course of pregnancy and breast feeding: a systematic evaluation and network meta-Assessment.
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