N syndrome

Key features of N-syndrome include malformations, ocular abnormalities, deafness, cryptorchidism, T-cell leukemia, hypospadias and spastic cerebral palsy.

Because of its rarity, little is known about N syndrome. However, it is based on an x-chromosomal inheritance, the cause is a mutation of the DNA polymerase alpha gene in question, which leads to chromosome brittleness.