wrinkly skin syndrome Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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://www.omim.org/entry/278250
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Genes

1 genes associated with the wrinkly skin syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

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