MEDNIK syndrome

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

Intrahepatic cholestasis

Impairment of bile flow due to obstruction in the small bile ducts within the liver.


Total: 0

                      


(per page)
PMID (PMCID)