Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-11-2019
Symbol MEDNIK
Location 7q22.1
Name mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia
Corresponding gene AP1S1
Main clinical features
  • erythrokeratodermia variabilis, with lamellar and erythrodermic ichthyosis, severe psychomotor retardation, peripheral neuropathy, and sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    mental retardation
    digestive tract/gastrointestinal
    ear
    Type disease
    Remark(s)