PHOX2A

paired like homeobox 2a
OMIM: 602753, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green PHOX2A in Congenital fibrosis of the extraocular muscles


Version 1.12
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 2, OMIM:602078