Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive disorder of glycosylation caused by mutations of the ALG9. The renal phenotype includes a Potter type 1 polycystic kidneys.
|Congenital disorder of glycosylation|
|Congenital disorder of glycosylation 1A|
|Congenital disorder of glycosylation 1L|
Tham E et. al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.[^]
Gillessen-Kaesbach G et. al. (1993) New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.[^]
Nishimura G et. al. (1998) A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents.[^]
Hallermann C et. al. (2000) Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.[^]