Wrinkly skin syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). (Orphanet Rare Disease Ontology, Orphanet_2834)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C536750
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Genes

1 genes/proteins associated with the disease Wrinkly skin syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 2.88009