Ichthyosiform erythroderma, corneal involvement, deafness

Source:http://linkedlifedata.com/resource/umls/id/C1275089

JABL: A syndrome of ichthyosis, deafness, ectodermal dysplasia, and corneal abnormalities (KID syndrome) in association with liver diseases, glycogen storage disorders, and delayed growth and mental development. Some authors question whether this is a variant form of KID syndrome, which is transmitted as an autosomal dominant trait, or an independent syndromic entity.

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