syndromic microphthalmia 14 (DOID:0111802)
Alliance: disease page
Synonyms: colobomatous microphthalmia-rhizomelic dysplasia syndrome; MCOPS14; MCSKS; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; microphthalmia/coloboma and skeletal dysplasia syndrome
Alt IDs: OMIM:615877, ORDO:424099
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.