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HelpList of clinical options in the problem/phenotype exhibited from sources such as the Human Phenotype Ontology (HPO) and OMIM. To learn more with regards to the condition, be sure to go to the disorder facts webpage.
Observe: OMIM is intended for use primarily by doctors and other professionals worried about genetic Conditions, by genetics scientists, and by State-of-the-art pupils in science and drugs. though the OMIM database is open to the general public, users looking for details about a personal professional medical or genetic ailment are urged to refer to with an experienced doctor for prognosis and for responses to personal queries. OMIM® and on the internet Mendelian Inheritance in guy® are registered logos in the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. 15, 2024 ×
A problem in which There's amplified muscle mass tone making sure that arms or legs, for example, are stiff and tricky to go.
with certain questions on a genetic check should really contact a wellbeing care more info provider or possibly a genetics Specialist.
See follow and clinical recommendations in PubMed. The search results could incorporate broader subject areas and might not capture all printed suggestions. begin to see the FAQ for particulars.
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Epileptogenic brain malformations: clinical presentation, malformative designs and indications for genetic testing.
Electroclinical capabilities and phenotypic distinctions in adenylosuccinate lyase deficiency: prolonged-term adhere to-up of seven clients from four family members and appraisal in the literature.
extended-expression developmental final result of kids of women with epilepsy, unexposed or uncovered prenatally to antiepileptic medicines: a meta-Evaluation of cohort research.
These recommendations are content in PubMed that match distinct look for requirements created by MedGen to seize the most relevant observe pointers. This checklist may not be extensive and may contain broader subjects in addition. See the FAQ for facts.
Fenfluramine delivers clinically significant reduction in frequency of drop seizures in sufferers with Lennox-Gastaut syndrome: Interim Investigation of an open up-label extension study.
An abnormal configuration of the lessen lip such that it's turned outward i.e., everted, Along with the Inner facet of the decreased lip vermilion (Generally opposing the tooth) currently being obvious inside of a frontal see.
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OMIM Donation: pricey OMIM person, To ensure extended-expression funding for the OMIM venture, We now have diversified our revenue stream. we've been established to help keep this Internet site freely obtainable. Unfortunately, It's not at all free of charge to supply. pro curators evaluate the literature and organize it to aid your function. more than ninety% with the OMIM's running costs head to income help for MD and PhD science writers and biocurators.
Comparative protection of antiepileptic drugs for neurological progress in small children uncovered for the duration of pregnancy and breast feeding: a scientific assessment and community meta-Evaluation.
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