| Metadata | |
|---|---|
| ID | DOID:0060841 |
| Name | isolated microphthalmia 8 |
| Definition | An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. https://www.ncbi.nlm.nih.gov/pubmed/23312594, https://www.ncbi.nlm.nih.gov/pubmed/23591992 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MCOP8 [EXACT] |
| Parent Relationships |