Catalog

Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome

No MMS code

Link to WHO Definition

Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome – http://id.who.int/icd/entity/153548027

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).