HS2ST1

heparan sulfate 2-O-sulfotransferase 1
OMIM: 604844
PanelMode of inheritanceDetails
2 panels
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
Intellectual disability, dysmorphic features, congenital anomalies
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, dysmorphic features, congenital anomalies, Neurofacioskeletal syndrome with or without renal agenesis,OMIM:619194