wrinkly skin syndrome

Term ID

DOID:0112171

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. (3)

References

• GARD:273
• MESH:C536750
• MIM:278250
• ORDO:2834
• SNOMEDCT_US_2023_03_01:238875009
• UMLS_CUI:C0406587

Ontology

Human Disease   ( DOID:0112171 )