OBO ID: DOID:0112171
Term Name: wrinkly skin syndrome Search Ontology:
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 ATP6V0A2 on chromosome 12q24.31. (3)
References:
Ontology: Human Disease   (DOID:0112171)
OTHER wrinkly skin syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP6V0A2 Wrinkly skin syndrome 278250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None