Chromosome Xp11.23-p11.22 duplication syndrome
Chromosome Xp11.23-p11.22 duplication syndrome
Definition
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.
Also known as chromosome Xp11.23-p11.22 duplication syndrome, chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant, Xp11.22-p11.23 Microduplication — per MONDO