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ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
Mondo Term and Equivalent IDs
MONDO:0009444:  ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
GARD:0000292: 
MESH:C537364: 
Orphanet:2269: 
UMLS:C1855788: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found