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Metadata
ID DOID:0060483
Name MEDNIK syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/23423674, https://www.ncbi.nlm.nih.gov/pubmed/24754424
Xrefs

OMIM:609313

ORDO:171851

Subsets

DO_rare_slim

Synonyms

erythrokeratodermia variabilis 3 [EXACT]

erythrokeratodermia variabilis, Kamouraska type [EXACT]

mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia [EXACT]

Parent Relationships

is_a syndrome

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