| Term Name: | autosomal recessive isolated ectopia lentis 2 |
|---|---|
| Synonyms: | ECTOL2 |
| Definition: | An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. |
| Ontology: | Human Disease [DOID:0111149] ( DOID:0111149 ) |