EXTL3

exostosin like glycosyltransferase 3
OMIM: 605744
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425, EXTL3 deficiency, Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay, Combined immunodeficiencies with associated or syndromic features
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425, Immunoskeletal dysplasia with neurodevelopmental abnormalities 617425