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Metadata
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

MIM:301043

Parent Relationships

is_a X-linked dominant disease

is_a holoprosencephaly

is_a X-linked recessive disease

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

has material basis in some X-linked dominant inheritance

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