Human genes for wrinkly skin syndrome
Wrinkly skin syndrome [DOID:0112171]
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.
Synonyms: wrinkly skin syndrome, DOID:0112171, wrinkly skin disease, wrinkly skin disorder, wrinkly skin syndromes ...