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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 ATP6V0A2 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_2020_09_01:238875009

UMLS_CUI:C0406587

Synonyms

WSS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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