Metadata | |
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ID | DOID:0060954 |
Name | Holoprosencephaly 13, X-linked |
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/ |
Xrefs | |
Parent Relationships |
is_a X-linked dominant disease is_a holoprosencephaly |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance has material basis in some X-linked dominant inheritance |