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congenital symmetric circumferential skin creases 2
Summary
- Synonym
-
- CSCSC2
- Definition
- A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2.
- Super Class
- autosomal dominant disease multiple benign circumferential skin creases on limbs
External Links
- Disease Ontology
- DOID:0112243
- Mondo Disease Ontology
- OMIM
