Cataract - intellectual deficit - hypogonadism (Q94133)

This syndrome is characterised by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Transmission is autosomal recessive and mutations in the RAB3GAP2 gene have been identified in some patients.