Chromosome Xp11.23-p11.22 duplication syndrome
MONDO:0010428A 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.
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Disease
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Human disease
(14)
Chromosomal disorder
(12)
Developmental defect during embryogenesis
(8)
Gonosome anomaly
(6)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Chromosome X disorder
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Disease by developmental or physiological process
(0)