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MIRAGE
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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
- 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:0000750 | Delayed speech and language development |
| HP:0001374 | Congenital hip dislocation |
| HP:0000316 | Hypertelorism |
