Term Name: | wrinkly skin syndrome |
---|---|
Synonyms: | WSS |
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. |
Ontology: | Human Disease [DOID:0112171] ( DOID:0112171 ) |