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HelpList of scientific characteristics with the situation/phenotype exhibited from resources such as the Human Phenotype Ontology (HPO) and OMIM. To find out more regarding the disorder, remember to go to the disease details web page.
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A situation during which There's amplified muscle tone to ensure that arms or legs, for instance, are stiff and tough to go.
with precise questions on a genetic check need to Get hold of a overall health treatment service provider or a genetics Skilled.
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A seizure can be an intermittent abnormality of anxious method physiology characterized by a transient prevalence get more info of indications and/or signs because of irregular excessive or synchronous neuronal activity in the Mind.
A hold off while in the achievement of motor or psychological milestones during the domains of growth of a baby, together with motor competencies, speech and language, cognitive capabilities, and social and psychological capabilities. This time period must only be employed to explain young children more youthful than five years of age.
Electroclinical attributes and phenotypic distinctions in adenylosuccinate lyase deficiency: extensive-term comply with-up of 7 people from four families and appraisal of the literature.
extensive-term developmental final result of children of women with epilepsy, unexposed or exposed prenatally to antiepileptic medications: a meta-Evaluation of cohort scientific tests.
carol : 07/21/2020 NOTE: OMIM is intended to be used primarily by physicians along with other experts worried about genetic Problems, by genetics scientists, and by Superior pupils in science and drugs. even though the OMIM database is open up to the public, end users searching for information regarding a private health care or genetic issue are urged to consult with a qualified physician for diagnosis and for answers to non-public queries. OMIM® and on line Mendelian Inheritance in male® are registered emblems in the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins University.
NIH can make no endorsements of exams or laboratories mentioned within the GTR. GTR isn't a substitute for medical advice. sufferers and buyers
An irregular configuration from the decrease lip this sort of that it's turned outward i.e., everted, Using the interior aspect of the lower lip vermilion (normally opposing the tooth) staying obvious inside a frontal watch.
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OMIM Donation: pricey OMIM consumer, to make certain lengthy-phrase funding for the OMIM job, Now we have diversified our revenue stream. we're decided to maintain this Web site freely accessible. regrettably, It's not free to supply. qualified curators evaluate the literature and organize it to aid your operate. more than 90% in the OMIM's working expenses head over to salary assistance for MD and PhD science writers and biocurators.
Comparative safety of antiepileptic medicine for neurological development in little ones uncovered through pregnancy and breast feeding: a scientific evaluate and network meta-Assessment.