The pattern of inheritance of<unk> -plus is autosomal recessive, where both parents are heterozygous they can produce a child with the syndrome. The B3GALTL (now called B3GLCT) gene codes for the enzyme beta 3-glucosyltransferase (B3Glc-T). The beta 3-glucosyltransferase enzyme is responsible for glycosylation, the attachment of sugars to proteins, which through this modification allows for performance of a wider variety of functions. The mutations of the B3GLCT gene in affected individuals results in loss-of-function of the beta 3-glucosyltransferase enzyme. The result of this disruption in glycosylation is a change to the secondary structure of the mRNA. These mutations of the B3GLCT gene lead to the production of an abnormally short, nonfunctional version of the beta 3-glucosyltransferase (B3Glc-T) enzyme, which disrupts glycosylation. The phenotypic effects of the B3GLCT mutations result in a triad of well known phenotypes;<unk>  anomaly (also classified as anterior segment defects, a defect in the anterior cornea), short stature, brachydactyly, in addition to several other less frequently observed phenotypes. A study of 55 patients with<unk> -plus-related phenotypes, but lacking the most common combination<unk>  anomaly, short stature, and brachydactyly), revealed none of those cases displayed mutation in the B3GLCT gene. Thus PPS-like signs and symptoms, when they occur independently of each other, provide strong evidence that the B3GLCT gene mutation is in fact responsible for actual cases<unk> .
Peters-plus syndrome
Bowen–Conradi syndrome
Jeavons syndrome
Barraquer–Simons syndrome
Larsen syndrome
Beare–Stevenson cutis gyrata syndrome
Van Wyk and Grumbach syndrome
Garland's triad