PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Coffin-Siris syndrome 10, OMIM:618506, Syndromic intellectual disability, Global developmental delay, Intellectual disability, Growth delay, Clinodactyly of the 5th finger, facial dysmorphism