Ichthyosis, mental retardation, dwarfism and renal impairment
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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: 2278
Definition
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Colmar, PA, 18915 , United States Phone: +1-215-997-9400 Toll Free: 1-800-545-3286 Email: info@firstskinfoundation.org Url: http://www.firstskinfoundation.org/
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