PQBP1 gene mutations cause syndromic intellectual disabilities named as Renpenning, Golabi-Ito-Hall, Sutherland-Haan, Hamel cerebro-palate-cardiac, and Porteous syndromes. There are other names relevant to PQBP1 gene mutations but not classified sufficiently in regards of difference in clinical features. Non-syndromic intellectual disabilities patients could have PQBP1 gene mutations. Main clinical features of these syndromes include intellectual disability, microcephaly, short stature, lean body, small testis and long narrow face. In addition to such frequent symptoms, various minor anomalies in the craniofacial region such as eye, ear, nose, palate, tooth and hear or anomalies in viscera such as visceral inversion and closed anus are reported. Epilepsy or spasticity might associate with the syndromes while the cause-effect relationship is not definite.
PQBP1