ISCA-37467-Gain

7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain
PanelMode of inheritanceDetails
1 panel
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype, 174500, Triphalangeal thumbpolysyndactyly syndrome, syndactyly type IV with tibial hypoplasia