| Metadata | |
|---|---|
| ID | DOID:0111802 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/24906020 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
colobomatous microphthalmia-rhizomelic dysplasia syndrome [EXACT] MCOPS14 [EXACT] MCSKS [EXACT] microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia [EXACT] microphthalmia/coloboma and skeletal dysplasia syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal inheritance |