Search Phenotypes

Cleft palate, syndromic, WDR33-related — syndromic cleft palate with pentalogy of Fallot and internal hydrocephalus

Bolcato et al. (2025): Genetic analysis identified a missense variant in WDR33 (omia.variant:1814) that was heterozygous in both analyzed cases [Belgian Blue cross calves] and in an estimated 40% of the paternal gametes of the mosaic [Belgian Blue] founder, but absent in both dams and controls. ... The genetic findings were most consistent with a likely pathogenic dominant de novo mutation in WDR33 as the underlying cause of the observed conge...

OMIA ID: 2970Inheritance: 9Characterised: YesYear: 2025

Lactoglobulin, beta, aberrant low expression

Braunschweig and Leeb (2006) showed that a "C to A transversion at position 215 bp upstream of the translation initiation site" of the beta-lactoglobulin (LBG) gene segregates with aberrant low expression of beta-lactoglobulin. Other symbols for this gene are BLG and PAEP, the latter being the official NCBI symbol.

OMIA ID: 1437Inheritance: 1Characterised: YesYear: 2006