Disease

congenital symmetric circumferential skin creases 2

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.

Synonyms

CSCSC2

Cross References

MIM:616734

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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