wrinkly skin syndrome (DOID:0112171)
Alliance: disease page
Synonyms: WSS
Alt IDs: OMIM:278250, MESH:C536750, ORDO:2834, UMLS_CUI:C0406587
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.