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ENShort Stature, Developmental Delay, and Congenital Heart Defects (SDDHD)
Alias:
Transketolase Deficiency
Tkt Deficiency
Sddhd
Short Stature-Developmental Delay-Congenital Heart Defect Syndrome
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Short Stature, Developmental Delay, and Congenital Heart Defects, also known as transketolase deficiency, is related to inherited metabolic disorder and cataract. An important gene associated with Short Stature, Developmental Delay, and Congenital Heart Defects is TKT (Transketolase). Affiliated tissues include heart and liver, and related phenotypes are global developmental delay and abnormal heart morphology
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MALACARDS
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