holoprosencephaly 9 (DOID:0110873)
Alliance: disease page
Synonyms: holoprosencephaly with microphthalmia and first branchial arch anomalies; HPE9; pituitary anomalies with holoprosencephaly-like features
Alt IDs: OMIM:610829, MESH:C563659
Definition: A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.