FOXE1

PanelMode of inheritanceDetails
3 panels
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital hypothyroidism, Bamforth Lazarus syndrome, 241850 (hypothyroidism), Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850, thyroid agenesis, cleft palate, spiky hair, choanal atresia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BAMFORTH-LAZARUS SYNDROME 241850
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BAMFORTH-LAZARUS SYNDROME