EHBP1L1

EH domain binding protein 1 like 1
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
non-immune hydrops fetalis MONDO:0009369
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
non-immune hydrops fetalis MONDO:0009369