MEDNIK syndrome (DOID:0060483)
Alliance: disease page
Synonyms: erythrokeratodermia variabilis 3; erythrokeratodermia variabilis, Kamouraska type; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
Alt IDs: OMIM:609313, ORDO:171851
Definition: A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.