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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:0002073 | Progressive cerebellar ataxia |
| HP:0002097 | Emphysema |
| HP:0002133 | Status epilepticus |
| HP:0002645 | Wormian bones |
| HP:0002751 | Kyphoscoliosis |
| HP:0002761 | Generalized joint hypermobility |
| HP:0002812 | Coxa vara |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0003199 | Decreased muscle mass |
| HP:0004322 | Short stature |
