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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:0001382 | Joint hypermobility |
| HP:0001582 | Redundant skin |
| HP:0001762 | Talipes equinovarus |
| HP:0001799 | Short nail |
| HP:0001808 | Fragile nails |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0003100 | Slender long bone |
| HP:0003577 | Congenital onset |
| HP:0003691 | Scapular winging |
