SOX6

PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tolchin-Le Caignec syndrome, OMIM:618971, Tolchin-Le Caignec syndrome, MONDO:0033544
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual diability, ADHD, Craniosynostosis, Osteochondromas