Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome (Q50989): Difference between revisions

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Latest revision as of 22:05, 13 August 2026

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is a genetic disorder characterised by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichthyosis, Keratodermia).

Language	Label	Description	Also known as
default for all languages	ID_153548027
English	Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome	MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is a genetic disorder characterised by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichthyosis, Keratodermia).