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HelpList of medical characteristics from the issue/phenotype shown from resources including the Human Phenotype Ontology (HPO) and OMIM. For more information concerning the illness, remember to go to the disorder information web page.
Observe: OMIM is intended for use generally by medical professionals and also other industry experts concerned with genetic Problems, by genetics scientists, and by Sophisticated college students in science and medication. though the OMIM database is open to the public, end users searching for specifics of a personal health care or genetic issue are urged to refer to with a certified doctor for diagnosis and for answers to personal concerns. OMIM® and Online Mendelian Inheritance in guy® are registered logos with the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. fifteen, 2024 ×
A problem wherein There exists elevated muscle tone to ensure arms or legs, such as, are stiff and challenging to move.
with particular questions on a genetic take click here a look at really should contact a overall health treatment supplier or possibly a genetics Skilled.
Efficacy and tolerability of fenfluramine in clients with Dravet syndrome: a scientific assessment and meta-Investigation.
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A seizure is surely an intermittent abnormality of anxious process physiology characterised by a transient prevalence of indicators and/or indicators due to irregular too much or synchronous neuronal action inside the Mind.
Epileptogenic Mind malformations: clinical presentation, malformative designs and indications for genetic testing.
Electroclinical attributes and phenotypic dissimilarities in adenylosuccinate lyase deficiency: lengthy-phrase abide by-up of seven patients from four people and appraisal with the literature.
very long-term developmental end result of kids of women with epilepsy, unexposed or exposed prenatally to antiepileptic prescription drugs: a meta-Investigation of cohort reports.
These tips are articles or blog posts in PubMed that match distinct lookup requirements formulated by MedGen to seize quite possibly the most relevant exercise rules. This listing may not be comprehensive and may incorporate broader matters as well. See the FAQ for aspects.
NIH will make no endorsements of tests or laboratories stated from the GTR. GTR will not be a substitute for medical assistance. individuals and shoppers
An irregular configuration of your decreased lip such that it is turned outward i.e., everted, with the interior element of the decreased lip vermilion (normally opposing the teeth) getting visible in the frontal see.
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Comparative security of antiepileptic prescription drugs for neurological development in young children exposed during pregnancy and breast feeding: a systematic critique and community meta-analysis.
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