Holoprosencephaly 13, X-linked

Term ID

DOID:0060954

Synonyms

Definition

A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. https://pubmed.ncbi.nlm.nih.gov/31334757/

References

• MIM:301043

Ontology

Human Disease   ( DOID:0060954 )