chromosome Xp11.23-p11.22 duplication syndrome
A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0017009
partial duplication of the short arm of chromosome X
is_a
Xp11.22-p11.23 Microduplication
exact
chromosome Xp11.23-p11.22 duplication syndrome
exact
chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant
exact