LHX3

PanelMode of inheritanceDetails
4 panels
R-numbers: R145
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GH, TSH, LH, FSH, PRL deficiency, limited neck rotation, short cervical spine, sensorineural deafness, anterior pituitary may be normal, hypoplastic or enlarged, Pituitary hormone deficiency, combined, 3, 221750
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3
R-numbers: R159
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pituitary hormone deficiency, combined, 3 (221750)