Term Name: | autosomal recessive isolated ectopia lentis 2 |
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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 ) |