Transketolase deficiency

MONDO:0014881

Also known as: TKT deficiency, short stature-developmental delay-congenital heart defect syndrome, SDDHD, short stature, developmental delay, and congenital heart defects

0 clinical trials for this condition and its sub-types, 0 tagged with Transketolase deficiency itself.

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↑ Cardiogenetic disease (618) ↑ Developmental anomaly of metabolic origin (384) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Inborn disorder of pentose phosphate metabolism (1)

Including sub-types (0) Tagged with Transketolase deficiency (0)

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