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wrinkly skin syndrome
Summary
- Synonym
-
- WSS
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112171
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004426 | Abnormal cheek morphology |
| HP:0004993 | Slender long bones with narrow diaphyses |
| HP:0005272 | Prominent nasolabial fold |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0006114 | Multiple palmar creases |
| HP:0006191 | Deep palmar crease |
| HP:0006891 | Thick cerebral cortex |
| HP:0007392 | Excessive wrinkled skin |
| HP:0007407 | Excessive skin wrinkling on dorsum of hands and fingers |
| HP:0007457 | Prominent veins on trunk |
