holoprosencephaly 9

Term ID

DOID:0110873

Synonyms

• holoprosencephaly with microphthalmia and first branchial arch anomalies
• HPE9
• pituitary anomalies with holoprosencephaly-like features

Definition

A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. https://www.ncbi.nlm.nih.gov/pubmed/14581620

References

• MESH:C563659
• OMIM:610829

Ontology

Human Disease   ( DOID:0110873 )