Genetic anomalies
19 entries in the Genetic Anomalies compendium.
1p36 deletion syndromeA genetic deletion syndrome affecting development, behavior, and multiple organ systems.2p15-16.1 microdeletion syndromeRare genetic syndrome from a small chromosome 2 deletion.3p deletion syndromeRare genetic disorder from deletion of chromosome 3p arm.17q12 microdeletion syndromeA rare genetic syndrome linked to kidney disease and neuropsychiatric conditions.22q11.2 distal deletion syndromeA rare genomic disorder from a missing chromosome 22 segment.22q11.2 duplication syndromeA rare genetic disorder with variable symptoms and frequent inheritance from normal parentChimera (genetics)Single organism with cells of different genotypes.DiGeorge syndromeGenetic disorder from 22q11.2 deletion, affecting heart, immune system, and development.Fragile X-associated primary ovarian insufficiencyGenetic condition causing premature ovarian failure in FMR1 premutation carriers.Genetic incompatibilityGenetic mismatches reduce offspring viability and shape mating strategies.Human chimeraA human with two distinct genotypes in one body.Intersex (biology)Organisms with sex characteristics between male and female.Klinefelter syndromeA chromosome anomaly causing infertility and small testicles in males.Koolen–De Vries syndromeRare genetic disorder from 17q21.31 microdeletion, discovered in 2006.Mosaic variegated aneuploidy syndromeRare genetic disorder causing mosaic aneuploidy and congenital abnormalities.Müllerian anomaliesCongenital malformations of the female reproductive tract from embryonic development errorPrader–Willi syndromeA rare genetic disorder causing insatiable hunger and developmental challenges.Ring chromosome 22Rare chromosomal disorder with variable phenotype and SHANK3 deletion.Smith–Magenis syndromeA microdeletion syndrome with distinct facial, sleep, and behavioral features.
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