B3GAT3

beta-1,3-glucuronyltransferase 3
OMIM: 606374
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600, B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
R-numbers: R100
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniosynostosis and bone fragility, Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects OMIM:245600, Larsen-like syndrome, B3GAT3 type MONDO:0009511
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600, B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600, Larsen alike phenotype (skd incl)