CCDC47

coiled-coil domain containing 47
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woolly hair, Abnormality of the liver, Global developmental delay, Intellectual disability, Trichohepatoneurodevelopmental syndrome, 618268