transketolase deficiency
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019231
inborn disorder of pentose phosphate metabolism
is_a
MONDO:0100547
cardiogenetic disease
is_a
SDDHD
related
TKT deficiency
exact
short stature-developmental delay-congenital heart defect syndrome
exact
SPBC2G5.05