Term Name: | septooptic dysplasia |
---|---|
Synonyms: | De Morsier syndrome, septo-optic dysplasia, SOD |
Definition: | A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14. |
Ontology: | Human Disease [DOID:0060857] ( DOID:0060857 ) |