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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:0000938 | Osteopenia |
| HP:0000343 | Long philtrum |
| HP:0001508 | Failure to thrive |
| HP:0000253 | Progressive microcephaly |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0000670 | Carious teeth |
| HP:0000028 | Cryptorchidism |
| HP:0001263 | Global developmental delay |
| HP:0000455 | Broad nasal tip |
| HP:0001374 | Congenital hip dislocation |
