| Metadata | |
|---|---|
| ID | DOID:0111811 |
| Name | syndromic microphthalmia 13 |
| Definition | A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/24993872, https://www.ncbi.nlm.nih.gov/pubmed/4998085 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation [EXACT] Maine microphthalmos [EXACT] MCOPS13 [EXACT] X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked inheritance |