EXTL3

exostosin like glycosyltransferase 3
OMIM: 605744
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuro immuno skeletal Dysplasia Syndrome
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
R-numbers: R15
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425