Term Name: | Beare-Stevenson cutis gyrata syndrome |
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Synonyms: | |
Definition: | A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. |
Ontology: | Human Disease [DOID:0050660] ( DOID:0050660 ) |