Visualize Submit Comment
Metadata
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

GARD:5538

MIM:604757

ORDO:1541

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

Add an item to the term tracker