X-Linked Intellectual Disability, Cilliers Type

X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).

Epidemiology

It has been described in four males from one family.

Etiology

The syndrome is mapped to the Xq25-q26 region of the X-chromosome.

Genetic counseling

The syndrome was transmitted in an X-linked recessive manner.