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GENATLAS PHENOTYPE

last update : 04-07-2016

Symbol	CHDRSS
Location	3p21.1
Name	congenital heart disease, mental retardation, short stature
Corresponding gene	TKT
Main clinical features	inborn errors of metabolism in the non-oxidative portion of the pentose phosphate pathway (PPP), with significantly reduced transketolase activity., and elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected proportional short stature, developmental delay, and congenital heart disease. TKT deficiency be included in the differential diagnosis of children with short stature, developmental delay, and congenital heart disease
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	mental retardation
	osteo-articular
Type	disease

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