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Human Disease

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
Ontology
Human Disease   ( DOID:0060954 )
Relationships
is a type of
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Genes Involved
Zebrafish Models