Families

Mutations in the TENM3lead ocular developmental defects that may be associated with intellectual deficiency (a syndrome named MCOPS15).

The most frequent malformation consists in microphthalmia (small eye) and coloboma.
Developmental delay/intellectual deficiency are present in two third of the reported patients.

MCOPS15 is a very rare syndrome with only 12 patients reported since the first description in 2012. The inheritance is autosomal recessive.