Chromosome Xp11.23-p11.22 duplication syndrome

MONDO:0010428

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: Xp11.22-p11.23 Microduplication, chromosome Xp11.23-p11.22 duplication syndrome, chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant

5 clinical trials for this condition and its sub-types, 0 tagged with Chromosome Xp11.23-p11.22 duplication syndrome itself.

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Partial duplication of the short arm of chromosome X (0)

Including sub-types (5) Tagged with Chromosome Xp11.23-p11.22 duplication syndrome (0)

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