The clinical features for all 81 diseases are divided into neurological and non-neurological signs and symptoms. For each disease only the most characteristic, specific and consistent features are listed here. We emphasize that that absence or presence of specific signs and / or symptoms not fitting our list does not in any way rule out the specific disorder in a patient.
Please note that the disease with a white background are the diseases which can be identified by routine metabolic screening tests. The diseases with a green background require a specific test.
It is also possible to search for a specific combination of signs & symptoms. This, much requested, feature uses a search engine and displays the disease pages on this site that contain the signs & symptoms you have entered. While results are accurate, this feature will be improved in the near future based on your feedback and search input.
Please note that the disease with a white background are the diseases which can be identified by routine metabolic screening tests. The diseases with a green background require a specific test.
It is also possible to search for a specific combination of signs & symptoms. This, much requested, feature uses a search engine and displays the disease pages on this site that contain the signs & symptoms you have entered. While results are accurate, this feature will be improved in the near future based on your feedback and search input.
