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HelpList of scientific functions on the affliction/phenotype shown from resources like the Human Phenotype Ontology (HPO) and OMIM. To find out more about the disease, remember to Visit the illness information webpage.
Be aware: OMIM is intended to be used principally by doctors as well as other professionals worried about genetic Conditions, by genetics scientists, and by Superior pupils in science and medicine. though the OMIM database is open up to the public, customers trying to find information about a personal healthcare or genetic problem are urged to refer to with a certified physician for diagnosis and for answers to non-public inquiries. OMIM® and on the internet Mendelian Inheritance in Man® are registered emblems in the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. fifteen, 2024 ×
A issue wherein There's enhanced muscle tone to make sure that arms or legs, for example, are rigid and difficult to go.
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See practice and medical suggestions in PubMed. The search engine results may possibly involve broader topics and may well not capture all revealed tips. See the FAQ for details.
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A seizure is an intermittent abnormality of nervous procedure physiology characterised by a transient prevalence of symptoms and/or indications on account of irregular extreme or synchronous neuronal exercise during the brain.
A hold off within the achievement of motor or mental milestones during the domains of enhancement of a youngster, such as motor abilities, speech and language, cognitive competencies, and social and emotional capabilities. This phrase need to only be employed to describe small children young than 5 years of age.
Electroclinical capabilities and phenotypic differences in adenylosuccinate lyase deficiency: extended-term observe-up of 7 individuals from four people and appraisal of the literature.
extensive-expression developmental final result of kids of ladies with epilepsy, unexposed or uncovered prenatally to antiepileptic medications: a meta-Investigation of cohort studies.
These suggestions are content articles in PubMed that match particular search conditions developed by MedGen to seize probably the most suitable apply guidelines. This listing might not be extensive and will contain broader subjects at the same time. See the FAQ for facts.
NIH helps make no endorsements of assessments or laboratories outlined from the GTR. GTR is not really a substitute for clinical suggestions. sufferers and customers
Comparative protection of antiepileptic medication for neurological advancement in children uncovered throughout pregnancy and breast feeding: a scientific evaluate and network meta-Evaluation.
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OMIM Donation: Dear OMIM User, to be certain long-time period funding for the OMIM challenge, We now have diversified our income stream. We are identified to maintain this Site freely check here available. Unfortunately, it is not absolutely free to provide. specialist curators evaluation the literature and Manage it to facilitate your function. about 90% of the OMIM's running costs drop by salary assistance for MD and PhD science writers and biocurators.
Comparative basic safety of antiepileptic prescription drugs for neurological growth in young children exposed during pregnancy and breast feeding: a systematic evaluate and community meta-Evaluation.
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