Human genes for septooptic dysplasia
Septooptic dysplasia [DOID:0060857]
A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14.
Synonyms: septooptic dysplasia, DOID:0060857, septooptic dysplasias, De Morsier syndrome, SOD ...