syndromic microphthalmia 14

Term ID

DOID:0111802

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. https://www.ncbi.nlm.nih.gov/pubmed/24906020

References

• OMIM:615877
• ORDO:424099

Ontology

Human Disease   ( DOID:0111802 )