skeletal defects, genital hypoplasia and mental retardation

skeletal defects, genital hypoplasia and mental retardation

A disorder (OMIM:612447) characterised by mental retardation, craniofacial dysmorphism, microcephaly and short stature, absent thumbs, hypoplasia of radii and ulnae, supernummerary vertebrae and ribs, retarded bone age, and genital hypoplasia. 

Molecular pathology
Caused by defects of ZBTB16, which plays a role in development and/or maintenance of differentiated tissues.