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chromosome Xp11.23-p11.22 duplication syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0010428:  chromosome Xp11.23-p11.22 duplication syndrome
GARD:0012766: 
MESH:C567585: 
Orphanet:217377: 
SCTID:721881008: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found