Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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Update: Sept. 26, 2018