BRESEK syndrome

BRESEK syndrome

An X-linked MIM 300404 condition defined by the BRESEK acronym:
 Brain anomalies;
Retardation—mental and growth;
Ectodermal dysplasia;
Skeletal defects;
Ear deformity and deafness/eye hypoplasia;
Kidney dysplasia/hypoplasia.
 
It is similar to BRESHECK syndrome but lacks Hirschsprung’s disease and Cleft palate/Cryptorchidism. Because both are caused by a mutation in MBTPS2, separation of the two is arbitrary.
Mentioned in ?