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HelpList of clinical features of your issue/phenotype exhibited from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more information about the sickness, make sure you go to the disease details webpage.
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A issue during which There may be enhanced muscle mass tone making sure that arms or legs, as an example, are stiff and tough to go.
with precise questions about a genetic take a look at need to Get hold of a health and fitness treatment supplier or simply a genetics Experienced.
Efficacy and tolerability of fenfluramine in sufferers with Dravet syndrome: a scientific overview and meta-analysis.
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A delay while in the achievement of motor or psychological milestones within the domains of advancement of a kid, together with motor competencies, speech and language, cognitive skills, and social and emotional competencies. This expression must only be utilized to explain small children more youthful than 5 years of age.
Progressive microcephaly is diagnosed when the head circumference falls progressively powering age- and gender-dependent norms.
Fenfluramine provides clinically meaningful reduction in frequency of fall seizures in individuals with Lennox-Gastaut syndrome: Interim Examination of the open up-label extension research.
carol : 07/21/2020 Observe: OMIM is meant for use mainly by physicians and other professionals worried about genetic Diseases, by genetics researchers, and by advanced college students in science and medicine. whilst the OMIM database is open up to the general public, end users in search of information regarding a personal professional medical or genetic affliction are urged to consult with a professional medical doctor for diagnosis and for answers to non-public issues. OMIM® and on the internet Mendelian Inheritance in male® are registered logos in the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University.
NIH makes no endorsements of exams or laboratories listed from the GTR. check here GTR is just not a substitute for clinical advice. Patients and consumers
Comparative security of antiepileptic medicine for neurological progress in kids exposed during pregnancy and breast feeding: a scientific evaluation and community meta-Evaluation.
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OMIM Donation: expensive OMIM User, To ensure extended-term funding with the OMIM job, Now we have diversified our earnings stream. We are determined to keep this Web page freely available. sadly, It isn't free to produce. qualified curators overview the literature and Arrange it to aid your do the job. Over 90% in the OMIM's functioning expenditures visit wage assistance for MD and PhD science writers and biocurators.
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