has material basis in germline mutation in TKT syndromic intellectual disability transketolase deficiency https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/short_stature_developmental_delay_and_congenital_heart_defects MONDO:0014881 short stature, developmental delay, and congenital heart defects UMLS:C5700245 GARD:0017894 SDDHD Orphanet:488618 OMIM:617044 TKT deficiency MEDGEN:1814561 short stature-developmental delay-congenital heart defect syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability developmental anomaly of metabolic origin inborn disorder of pentose phosphate metabolism cardiogenetic disease