TELO2

telomere maintenance 2
OMIM: 611140
PanelMode of inheritanceDetails
2 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
YOU-HOOVER-FONG SYNDROME, YHFS
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
You-Hoover-Fong syndrome, 616954, syndromic intellectual disability