This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.
It has been described in two brothers born to nonconsanguineous parents of Caucasian origin.
EEG findings were normal in both cases.
Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded.
Last update: May 2009