Clefting

Gene: B3GAT3

Red List (low evidence)

Cleft palate described as a rare feature of Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects within the OMIM clinical synopsis, but not mentioned in the main text for the gene. Gene associated with Larsen-like syndrome, B3GAT3 type in Orphanet, and clefting not mentioned within the disease description. Lietarture search results - PMID 27871226 does not mention clefting, PMID 27320698 clefting not mentioned within the table of Clinical Features in Patients With Deleterious Sequence Variants in B4GALT7 in 7 patients, PMID 27023906 clefting not described for the patient with a homozygous B3GAT3 variant. In PMID: 26086840 clefting not mentioned as a feature in Patients With Linkeropathies. PMID 24668659 - clefting not mentioned for the 5 patients with B3GAT3 variants or their patient. PMID 25893793 - clefting not mentioned as a feature of cases in a large clan with disproportionate short stature and bone dysplasia who had homozygous variants in this gene.

Created: 31 May 2017, 1:52 p.m.

Phenotypes
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS; JDSCD