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HelpList of medical options of your affliction/phenotype shown from resources such as the Human Phenotype Ontology (HPO) and OMIM. To find out more regarding the sickness, be sure to Visit the disorder information site.

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essential Notice: NIH will not independently validate facts submitted to the GTR; it depends on submitters to provide facts that may be precise and never misleading.

with precise questions about a genetic exam ought to Speak to a overall health care provider or possibly a genetics Specialist.

See practice and clinical recommendations in PubMed. The search engine results may possibly include broader topics and might not capture all revealed tips. begin to see the FAQ for facts.

The site is safe. The https:// assures you are connecting to your official Web-site Which any data you present is encrypted and transmitted securely.

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A hold off inside the accomplishment of motor or mental milestones from the domains of progress of a baby, which include motor techniques, speech and language, cognitive capabilities, and social and psychological abilities. This expression should really only be used to describe young children younger than five years of age.

Electroclinical attributes and phenotypic variances in adenylosuccinate lyase deficiency: very long-time period comply with-up of 7 people from four family members and appraisal of the literature.

prolonged-expression developmental final result of kids of ladies with epilepsy, unexposed or exposed prenatally to antiepileptic medications: a meta-Evaluation of cohort scientific studies.

These pointers are articles or blog posts in PubMed that match certain search conditions designed by MedGen to capture probably the most pertinent follow suggestions. This listing might not be detailed and may involve broader matters at the same time. See the FAQ for particulars.

Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in individuals with Lennox-Gastaut syndrome: Interim Evaluation of an open up-label extension study.

Comparative protection of antiepileptic medications for neurological enhancement in youngsters uncovered during pregnancy and breast feeding: a systematic overview and network meta-Investigation.

The site is safe. The https:// assures that you're connecting towards the official Web-site Which any information you provide is encrypted and transmitted securely.

OMIM Donation: expensive OMIM consumer, to make sure lengthy-time period funding for the OMIM task, Now we have diversified our revenue stream. we've been identified to keep this website freely available. however, It's not necessarily free of charge to make. specialist curators assessment the literature and organize read more it to aid your perform. more than 90% of the OMIM's working fees check out income aid for MD and PhD science writers and biocurators.

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