Term Name:	syndromic microphthalmia 14
Synonyms:	colobomatous microphthalmia-rhizomelic dysplasia syndrome, MCOPS14, MCSKS, microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia, microphthalmia/coloboma and skeletal dysplasia syndrome
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.
Ontology:	Human Disease [DOID:0111802]   ( DOID:0111802 )