Disease

syndromic microphthalmia 14

Definition
A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3.
Synonyms
  • colobomatous microphthalmia-rhizomelic dysplasia syndrome
  • MCOPS14
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models