Term Name:	syndromic microphthalmia 16
Synonyms:	isolated microphthalmia 3, MCOP3
Definition:	An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21.
Ontology:	Human Disease [DOID:0060842]   ( DOID:0060842 )