| 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 |