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HelpList of scientific capabilities with the ailment/phenotype displayed from sources such as the Human Phenotype Ontology (HPO) and OMIM. To find out more concerning the disease, be sure to Visit the condition information and facts webpage.
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A situation during which You can find elevated muscle mass tone so that arms or legs, such as, are stiff and difficult to move.
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Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic evaluate and meta-analysis.
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A seizure can be an intermittent abnormality of anxious system physiology characterised by a transient incidence of signs and/or symptoms as a result of abnormal abnormal or synchronous neuronal exercise inside the Mind.
Epileptogenic brain malformations: clinical presentation, malformative styles and indications for genetic screening.
Progressive microcephaly is diagnosed when The pinnacle circumference falls progressively driving age- and gender-dependent norms.
Long-phrase developmental end result of children of girls with epilepsy, unexposed or exposed prenatally to antiepileptic medicine: a meta-analysis of cohort scientific studies.
carol : 07/21/2020 Observe: OMIM is meant to be used mostly by physicians together with other specialists concerned with genetic Issues, by genetics scientists, and by State-of-the-art college students in science and drugs. though the OMIM database is open up to the public, people seeking details about a personal health-related or genetic affliction are urged to consult with a qualified medical doctor for prognosis and for responses to personal issues. OMIM® and on the web Mendelian Inheritance in male® are registered emblems of the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University.
NIH will make no endorsements of checks or laboratories detailed while in the GTR. GTR is just not a substitute for clinical suggestions. Patients and people
An abnormal configuration of the lower lip these kinds of that it's turned outward i.e., everted, While using the interior element of the reduced lip vermilion (Commonly opposing the tooth) remaining visible in a very frontal perspective.
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Comparative basic safety of antiepileptic medicines for neurological improvement in read more small children uncovered throughout pregnancy and breast feeding: a systematic assessment and community meta-Investigation.
Comparative security of antiepileptic medicines for neurological development in youngsters exposed throughout pregnancy and breast feeding: a systematic critique and community meta-Investigation.
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