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Chromosome Xp11.23-p11.22 duplication syndrome
rareA 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.
- Identifiers
- MONDO:0010428 OMIM:300801Orphanet:217377
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial duplication of the short arm of chromosome X
- Also known as
- chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant · Xp11.22-p11.23 Microduplication
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