Term Name: ectopia lentis with ectopia of pupil
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 )

Relationships
is a type of: autosomal recessive disease eye disease