Ectopia lentis 2, isolated, autosomal recessive

Definition

An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.

Also known as ECTOL2, ectopia lentis 2, isolated, autosomal recessive, ectopia lentis, isolated, autosomal recessive — per MONDO

Also identified as

• DOID 0111149 per MONDO
• OMIM 225100 per MONDO
• UMLS C3541474 per MONDO