Metadata | |
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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 |