SPRED2

sprouty related EVH1 domain containing 2
OMIM: 609292
PanelMode of inheritanceDetails
3 panels
R-numbers: R147
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, a typical facial gestalt