Al-Gazali syndrome (ALGAZ) is characterized by multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality. Pathogenic variants in B3GALT6 have been reported to cause ALGAZ. This gene encodes an essential component of the glycosaminoglycan synthesis pathway.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02436 Al-Gazali syndrome
Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L
Title
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta3GalT6-pathy mutations.
Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family.
