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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:0008070 | Sparse hair |
| HP:0008113 | Multiple plantar creases |
| HP:0008897 | Postnatal growth retardation |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009125 | Lipodystrophy |
| HP:0010838 | High nonceruloplasmin-bound serum copper |
| HP:0010989 | Abnormality of the intrinsic pathway |
| HP:0011003 | High myopia |
| HP:0011995 | Atrial septal dilatation |
| HP:0200141 | Small, conical teeth |
