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HelpList of clinical attributes of your affliction/phenotype shown from sources including the Human Phenotype Ontology (HPO) and OMIM. For more information in regards to the ailment, please Visit the illness information website page.
Observe: OMIM is intended for use principally by medical professionals and other industry experts concerned with genetic Problems, by genetics researchers, and by advanced pupils in science and medication. whilst the OMIM databases is open up to the public, users trying to find information about a personal health-related or genetic affliction are urged to consult with a professional physician for diagnosis and for answers to private inquiries. OMIM® and Online Mendelian Inheritance in person® are registered emblems on the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. fifteen, 2024 ×
vital NOTE: NIH would not independently validate facts submitted towards the GTR; it relies on submitters to offer information that's exact and not deceptive.
with distinct questions about a genetic test should really Call a wellbeing treatment provider or perhaps a genetics professional.
Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: a scientific evaluation and meta-Investigation.
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A read more seizure is definitely an intermittent abnormality of anxious system physiology characterised by a transient incidence of indicators and/or signs and symptoms because of irregular extreme or synchronous neuronal exercise in the brain.
Epileptogenic Mind malformations: medical presentation, malformative styles and indications for genetic testing.
Electroclinical options and phenotypic variations in adenylosuccinate lyase deficiency: prolonged-phrase adhere to-up of seven patients from 4 households and appraisal of your literature.
Fenfluramine offers clinically significant reduction in frequency of fall seizures in patients with Lennox-Gastaut syndrome: Interim Assessment of an open-label extension research.
carol : 07/21/2020 Be aware: OMIM is intended to be used mainly by physicians and other specialists worried about genetic Issues, by genetics researchers, and by Highly developed college students in science and medication. when the OMIM database is open up to the general public, customers trying to get information regarding a personal professional medical or genetic issue are urged to consult with a qualified medical professional for analysis and for solutions to private concerns. OMIM® and Online Mendelian Inheritance in person® are registered logos on the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins University.
NIH will make no endorsements of assessments or laboratories listed while in the GTR. GTR is not a substitute for healthcare guidance. individuals and shoppers
An irregular configuration of the lessen lip such that it's turned outward i.e., everted, with the internal facet of the lower lip vermilion (normally opposing the tooth) staying obvious inside a frontal look at.
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Comparative protection of antiepileptic medicine for neurological progress in young children uncovered for the duration of pregnancy and breast feeding: a scientific review and community meta-Investigation.
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