Dictionary of Human Evolution and Biology

Dictionary of Human Evolution and Biology

Chédiak-Steinbrinck-Higashi Syndrome

Heritable autosomal recessive condition characterized by decreased hair and eye pigmentation, and a tendency toward infections and lymphomas; a defect of lysosome formation. There are analogous conditions in several animal species.

Full-Text Search Entries

Down syndrome (Profound phenotype caused by the presence of three copies of all the genes on chromosome 21 ( ...)
Angelman syndrome (AS) (... happy puppet syndrome, Prader-Willi/Angelman syndrome. See Prader-Willi syndrome.)
cri-du-chat syndrome (... adulthood. Aka cat’s cry syndrome, 5p-syndrome.)
Albright syndrome (... Sternberg syndrome, McCune-Albright syndrome. Formerly called Albright’s disease.)
androgen insensitivity syndrome (An X-linked developmental anomaly in which a chromosomal XY male embryo with testicular tissue ...)