This is an X-linked form, which means that the malfunctioning gene is located on the X chromosome.

The most common mode of inheritance is autosomal dominant with reduced penetrance, while autosomal recessive and X-linked forms occur more rarely.

This results in the X-linked recessive form of the disease wherein the major protein affected is dyskerin.

Thus, the X-linked form of this disease may result in specific issues related to dysfunctional rRNA and perhaps a graver phenotype.

The X-linked form is more commons and males generally constitute 90% of cases.

Clinically, mutation results in the X-linked form of Kallmann syndrome.

A rare X-linked dominant form exists called Vitamin D resistant rickets.

Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.

Men with the X-linked form more commonly have associated anomalies, which can be neurological or more widespread, and they usually suffer from developmental problems.

In most cases, males with an X-linked form of this condition experience more severe dental abnormalities than affected females.