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HelpList of medical features in the affliction/phenotype displayed from resources like the Human Phenotype Ontology (HPO) and OMIM. For more information with regards to the condition, please Visit the disease information web page.
Be aware: OMIM is intended to be used principally by physicians and various experts concerned with genetic disorders, by genetics scientists, and by Highly developed college students in science and medicine. even though the OMIM databases is open to the general public, people trying to find details about a private medical or genetic situation are urged to consult with a certified health practitioner for analysis and for responses to non-public thoughts. OMIM® and on line Mendelian Inheritance in gentleman® are registered logos of your Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. 15, 2024 ×
A issue during which there is greater muscle tone to make sure that arms or legs, by way of example, are rigid and hard to go.
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Efficacy and tolerability of fenfluramine in clients with Dravet syndrome: A systematic overview and meta-Investigation.
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A seizure is definitely an intermittent abnormality of anxious program physiology characterized by a transient incidence of signs and/or signs and symptoms because of irregular too much or synchronous neuronal action from the Mind.
Epileptogenic Mind malformations: scientific presentation, malformative styles and indications for genetic screening.
Progressive microcephaly is diagnosed when The top circumference falls progressively at the rear of age- and gender-dependent norms.
Long-phrase developmental end result of kids of girls with epilepsy, unexposed or uncovered prenatally to website antiepileptic medications: a meta-Examination of cohort studies.
These tips are article content in PubMed that match particular look for requirements created by MedGen to seize quite possibly the most appropriate exercise tips. This record may not be complete and could incorporate broader subject areas likewise. See the FAQ for specifics.
Fenfluramine supplies clinically significant reduction in frequency of drop seizures in sufferers with Lennox-Gastaut syndrome: Interim Investigation of an open up-label extension review.
Comparative protection of antiepileptic prescription drugs for neurological progress in kids exposed for the duration of pregnancy and breast feeding: a scientific evaluation and network meta-Assessment.
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OMIM Donation: expensive OMIM consumer, to be sure extensive-phrase funding to the OMIM venture, Now we have diversified our revenue stream. We are decided to help keep this Web site freely obtainable. sad to say, It's not necessarily totally free to provide. pro curators overview the literature and organize it to aid your perform. around 90% from the OMIM's running bills visit wage assistance for MD and PhD science writers and biocurators.
Comparative basic safety of antiepileptic medication for neurological improvement in little ones uncovered during pregnancy and breast feeding: a scientific overview and network meta-Evaluation.