| Metadata | |
|---|---|
| ID | DOID:0112171 |
| Name | wrinkly skin syndrome |
| Definition | A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. https://www.ncbi.nlm.nih.gov/books/NBK5200/, https://pubmed.ncbi.nlm.nih.gov/18157129/, https://pubmed.ncbi.nlm.nih.gov/4765201/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:238875009 |
| Subsets |
DO_rare_slim |
| Synonyms |
WSS [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |