Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Partial duplication of the short arm of chromosome X
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.
This condition has no sub-types.