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Metadata
ID	DOID:0112171
Name	wrinkly skin syndrome
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. https://pubmed.ncbi.nlm.nih.gov/18157129/, https://pubmed.ncbi.nlm.nih.gov/4765201/, https://www.ncbi.nlm.nih.gov/books/NBK5200/
Xrefs	GARD:273 MESH:C536750 OMIM:278250 ORDO:2834 SNOMEDCT_US_2023_03_01:238875009 UMLS_CUI:C0406587
Subsets	DO_rare_slim
Synonyms	WSS [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease