_:vb50946222 "url:https://www.ncbi.nlm.nih.gov/books/NBK5200/"^^ . _:vb50946222 . _:vb50946222 "url:https://pubmed.ncbi.nlm.nih.gov/4765201/"^^ . _:vb50946222 . _:vb50946222 . _:vb50946222 . _:vb50946222 "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 ATP6V0A2 on chromosome 12q24.31."^^ . _:vb50946222 "url:https://pubmed.ncbi.nlm.nih.gov/18157129/"^^ . _:vb50946222 . _:vb50946222 .