Screenshots

Description

An interactive tool that identifies 116 inborn errors of metabolism which are causally related to Intellectual Disability and amenable to therapy.

A systematic literature review identified 116 inborn errors of metabolism which are causally related to Intellectual Disability and amenable to therapy.

These diseases are presented in this app as an interactive tool for the clinician and scientist, both expert and trainee.

The information is presented in several different ways: ranging from the biochemical categories, signs & symptoms, diagnostic tests, genes, to therapies & evidence.

For each condition a disease page has been created as information portal with access to specific genetics, biochemistry, phenotype, diagnostic tests and therapeutic options. Online Resources include: OMIM, Gene Reviews, Orphanet, Gene Cards, Wikipathways and more.

Ratings and Reviews

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App Privacy

The developer, Roderick Houben, indicated that the app’s privacy practices may include handling of data as described below. For more information, see the developer’s privacy policy.

Data Not Collected

The developer does not collect any data from this app.

Privacy practices may vary based on, for example, the features you use or your age. Learn More

Supports

  • Family Sharing

    Up to six family members will be able to use this app with Family Sharing enabled.

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