Term Name:	MEDNIK syndrome
Synonyms:	erythrokeratodermia variabilis 3, erythrokeratodermia variabilis, Kamouraska type, mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
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.
Ontology:	Human Disease [DOID:0060483]   ( DOID:0060483 )