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 )

Relationships
is a type of: autosomal recessive disease syndrome