Condition: Cryptophthalmos, Unilateral or Bilateral, Isolated
rs114837786
in
FREM2
gene and
Cryptophthalmos, Unilateral or Bilateral, Isolated
PMID 30802441
2019 Loss-of-function mutations in FREM2 disrupt eye morphogenesis.
PMID 29688405
2018 A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.