|OBO ID: DOID:0112171|
|Term Name:||wrinkly skin syndrome||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0112171)|
|is a type of:||
OTHER wrinkly skin syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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