Term Name: | ectopia lentis with ectopia of pupil |
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Synonyms: | ectopia lentis et pupillae |
Definition: | An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. |
Ontology: | Human Disease [DOID:0111648] ( DOID:0111648 ) |