AREDYLD
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1133
Definition
A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
An unknown % of people have these symptoms.
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Fairview Heights, IL, 62258-1360, United States Phone: +1-618-566-2020 Fax : +1-618-566-4718 Email: info@nfed.org Url: https://www.nfed.org/ Name: Canadian Ectodermal Dysplasia Syndromes Association CEDSA 124 Lochiel Street
Renfrew, Ontario K7V 1W7, Canada Phone: +1-613-432-9732 Email: meghan@ectodermaldysplasia.ca Url: http://www.ectodermaldysplasia.ca/
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