Growth retardation with developmental delay and facial dysmorphism
Growth retardation, developmental delay, facial dysmorphism is an autosomal recessive disorder caused by mutations of the FTO gene.
|Syndromic growth retardation|
|Growth retardation with developmental delay and facial dysmorphism|
|Short stature, developmental delay, and congenital heart defects|
Boissel S et al. (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.[^]
Daoud H et al. (2016) Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.[^]
OMIM.ORG articleOmim 612938 [^]