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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:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000308 | Microretrognathia |
| HP:0000431 | Wide nasal bridge |
| HP:0000592 | Blue sclerae |
| HP:0000691 | Microdontia |
| HP:0001249 | Intellectual disability |
| HP:0001252 | Hypotonia |
