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 | |
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 |