Syndromic microphthalmia-16 (MCOPS16) 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. Some patients exhibit developmental delay and intellectual disability or autism (Voronina et al., 2004; Abouzeid et al., 2012; Chassaing et al., 2014; Brachet et al., 2019).
For discussion of the genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800). [from OMIM]
- MedGen UID:
- 1823955
- •Concept ID:
- C5774181
- •
- Disease or Syndrome