OBO ID: DOID:0112171 |
Term Name: | wrinkly skin syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0112171 ) |
OTHER wrinkly skin syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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