Short stature, developmental delay, and congenital heart defects

Short stature, developmental delay, and congenital heart defects is an autosomal recessive grow retardation syndrome caused by mutations of the TKT gene.

Systematic

Syndromic growth retardation
	Growth retardation with developmental delay and facial dysmorphism
	Short stature, developmental delay, and congenital heart defects
		TKT

References:

1.	Boyle L et al. (2016) Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

2.	OMIM.ORG article Omim 617044