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 )

Relationships
is a type of: autosomal genetic disease syndrome