Metadata | |
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ID | DOID:0061009 |
Name | craniosynostosis 2 |
Definition | A craniosynostosis characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly that has_material_basis_in heterozygous mutation in the MSX2 gene on chromosome 5q35. https://pubmed.ncbi.nlm.nih.gov/23438589/ |
Xrefs | |
Synonyms |
Craniosynostosis Boston type [EXACT] Craniosynostosis Warman type [EXACT] CRS2 [EXACT] Warman-Mulliken-Hayward syndrome [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a craniosynostosis |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |