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Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
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Disease definition
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 Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
ORPHA:2269
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: produced/endorsed by FSMR(s)
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