| Metadata | |
|---|---|
| ID | DOID:0060839 |
| Name | isolated microphthalmia 2 |
| Definition | An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. https://www.ncbi.nlm.nih.gov/pubmed/15257456, https://www.ncbi.nlm.nih.gov/pubmed/3378363 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MCOP2 [EXACT] |
| Parent Relationships |