Professionals

TENM3pathogenic variants have been reported in 12 patients. The main phenotype associated with TENM3pathogenic variations consists in eye growth defects associated with iris and chorioretinal coloboma (9/12 patient) while isolated microphthalmia (1 patient) or coloboma (2 patients have been reported. Additional rare ocular features that may be associated are ptosis (3 patients), cataract (3 patients) and anterior segment dysgenesis (1 patient).

This ocular phenotype is often associated with global developmental delay/intellectual disability (8/12 patients). Some features were also rarely described (microcephaly in 2 patients, hypospadias in 2 patients, cardiac defect in one patient and nephrolithiasis in one patient) and it is still unclear if they are part of the syndrome.