PHOX2B, paired like homeobox 2B, 8929

N. diseases: 128; N. variants: 11
Disease: Congenital Fiber Type Disproportion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.010 GeneticVariation disease BEFREE This is the first case report (to our knowledge) demonstrating congenital central hypoventilation syndrome due to PHOX2B mutations with congenital muscle fiber-type disproportion. 18658083 2008