Genomics England
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Genes and Entities
PHOX2A
paired like homeobox 2a
OMIM:
602753
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Panel
Mode of inheritance
Details
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Congenital fibrosis of the extraocular muscles
R-numbers:
R46
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fibrosis of extraocular muscles, congenital, 2 602078, Fibrosis of extraocular muscles, congenital, 2