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 )

Relationships
is a type of: autosomal recessive disease isolated ectopia lentis