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HelpList of medical options of your issue/phenotype shown from resources such as the Human Phenotype Ontology (HPO) and OMIM. For more information with regard to the illness, remember to Visit the sickness details website page.

Take note: OMIM is intended for use check here primarily by physicians along with other specialists worried about genetic Ailments, by genetics scientists, and by advanced students in science and drugs. although the OMIM database is open up to the general public, buyers trying to find information regarding a personal health-related or genetic situation are urged to refer to with a professional medical doctor for analysis and for responses to personal thoughts. OMIM® and Online Mendelian Inheritance in guy® are registered trademarks of your Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins University. Printed: Sept. 15, 2024 ×

A issue in which There may be increased muscle tone to ensure that arms or legs, one example is, are stiff and tricky to transfer.

with specific questions about a genetic check ought to Make contact with a wellbeing care service provider or perhaps a genetics Expert.

Efficacy and tolerability of fenfluramine in individuals with Dravet syndrome: a scientific assessment and meta-Examination.

the website is protected. The https:// guarantees that you'll be connecting towards the Formal Web page Which any info you present is encrypted and transmitted securely.

A seizure is undoubtedly an intermittent abnormality of anxious system physiology characterised by a transient prevalence of signs and/or signs resulting from abnormal abnormal or synchronous neuronal action within the brain.

A delay inside the accomplishment of motor or psychological milestones inside the domains of progress of a baby, including motor competencies, speech and language, cognitive expertise, and social and emotional competencies. This term should only be applied to explain young children more youthful than five years of age.

Electroclinical characteristics and phenotypic variations in adenylosuccinate lyase deficiency: lengthy-expression follow-up of 7 people from four family members and appraisal with the literature.

extended-expression developmental end result of children of women with epilepsy, unexposed or uncovered prenatally to antiepileptic medication: a meta-Investigation of cohort studies.

These suggestions are content articles in PubMed that match precise research conditions developed by MedGen to capture by far the most relevant practice tips. This record may not be thorough and could include broader matters likewise. begin to see the FAQ for aspects.

NIH tends to make no endorsements of tests or laboratories mentioned while in the GTR. GTR is not a substitute for health care suggestions. sufferers and consumers

Comparative basic safety of antiepileptic medication for neurological growth in kids exposed during pregnancy and breast feeding: a systematic assessment and network meta-Examination.

the location is safe. The https:// guarantees you are connecting into the official Web-site Which any information and facts you supply is encrypted and transmitted securely.

OMIM Donation: expensive OMIM person, to make certain extended-time period funding with the OMIM job, Now we have diversified our earnings stream. We are identified to help keep this Site freely accessible. regretably, it is not free of charge to generate. pro curators assessment the literature and Arrange it to aid your function. around 90% on the OMIM's operating expenses drop by salary aid for MD and PhD science writers and biocurators.

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