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Definition

A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea.

Acronym

MEDNIK

Synonyms

EKV3
Erythrokeratodermia variabilis 3
Erythrokeratodermia variabilis Kamouraska type

Keywords

Deafness
Neuropathy
Ichthyosis
Mental retardation

 
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