4 terms in genetics
Autosomal‑dominant disorder caused by a gain‑of‑function mutation in FGFR3 that overly suppresses chondrocyte proliferation at the growth pl…
Genetic condition in which a phenotypic male has an extra X chromosome (47,XXY), leading to primary testicular failure (hypergonadotropic hy…
X‑linked recessive HGPRT enzyme deficiency that blocks purine salvage, causing hyperuricemia (↑uric acid) with early-onset gout, neurologic …
Rare genetic imprinting disorder (loss of paternal 15q11.2–q13) causing infantile hypotonia with poor feeding, followed by hyperphagia leadi…