Term Name: | Holoprosencephaly 13, X-linked |
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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. |
Ontology: | Human Disease [DOID:0060954] ( DOID:0060954 ) |